Name:
Name: Amyloid beta A4 precursor protein-binding family A member 3 (Neuron-specific X11L2 protein) (Neuronal Munc18-1-interacting protein 3) (Mint-3) (Adapter protein X11gamma).
Accession: O96018
Origin:
mdfptisrsp sgppamdleg prdilvpsed ltpdsqwdpm pggpgslsrm eldesslqel
vqqfealpgd lvgpspggap cplhiatghg lasqeiadah gllsaeagrd dllgllhcee
cppsqtgpee plepaprllq ppedpdedsd spewvegasa eqegsrssss spepwletvp
lvtpeeppag aqspetlasy papqevpgpc dhedlldgvi fgarylgstq lvsernppts
trmaqaream drvkapdget qpmtevdlfv stkrikvlta dsqeammdha lhtisytadi
gcvlvlmarr rlarrpapqd hgrrlykmlc hvfyaedaql iaqaigqafa aaysqflres
gidpsqvgvh pspgachlhn gdldhfsnsd ncrevhlekr rgeglgvalv esgwgsllpt
avianllhgg paersgalsi gdrltaingt slvglplaac qaavretksq tsvtlsivhc
481 ppvttaiihr phareqlgfc vedgiicsll rggiaerggi rvghriiein gqsvvatpha
541 riiellteay gevhiktmpa atyrlltgqe qpvyl
Variants:
I527F causes amyloid disease
Name: Cystatin C precursor (Neuroendocrine basic polypeptide) (Gamma-trace) (Post-gamma-globulin).
Accession: P01034
Origin:
magplrapll llailavala vspaagsspg kpprlvggpm dasveeegvr raldfavgey
nkasndmyhs ralqvvrark qivagvnyfl dvelgrttct ktqpnldncp fhdqphlkrk
afcsfqiyav pwqgtmtlsk stcqda
Variants:
A25T cause AD
L94Q cause AD
W132S cause AD
Name: Lysozyme C precursor (1,4-beta-N-acetylmuramidase C).
Accession: P61626
Origin:
mkalivlglv llsvtvqgkv fercelartl krlgmdgyrg islanwmcla kwesgyntra
tnynagdrst dygifqinsr ywcndgktpg avnachlscs allqdniada vacakrvvrd
pqgirawvaw rnrcqnrdvr qyvqgcgv
Variants:
V10A causes AD
I41M causes AD
I74T causes AD
D85H causes AD
T88N causes AD
V111A cause AD
I124V causes AD
V128A causes AD
N136D causes AD
Name: Presenilin 2 (PS-2) (ALG-3) (Alzheimer disease 4 homolog).
Accession: Q61144.
Origin:
mlafmasdse eevcdertsl msaesptsrs cqegrpgped gestaqwrtq eseedceedp
dryacsgapg rpsgleeelt lkygakrvim lfvpvtlcmi vvvatiksvr fytekngqli
ytpftedtps vgqrllnsvl ntlimisviv vmtiflvvly kyrcykfihg wlimsslmll
flftyiylge vlktynvamd yptlflavwn fgavgmvcih wkgplvlqqa ylivisalma
lvfikylpew sawvilgais vydlvavlcp kgplrmlvet aqernepifp aliyssamvw
tvgmakldps sqgalqlpyd pemeedsyds fgepsypeaf eaplpgypge eleeeeergv
klglgdfify svlvgkaaat gngdwnttla cfiailiglc ltllllavfk kalpalpisi
tfglifyfst dnlvrpfmdt lashqlyi
Variants:
D40G causes AD
R87H causes AD
V226A causes AD
Name: Gamma-secretase subunit APH-1A (APH-1a) (Aph-1alpha) (Presenilin stabilization factor) (CGI-78) (UNQ579/PRO1141).
Accession: Q96BI3
Origin:
mgaavffgct fvafgpafal flitvagdpl rviilvagaf fwlvslllas vvwfilvhvt
drsdarlqyg llifgaavsv llqevfrfay ykllkkadeg laslsedgrs pisirqmayv
sglsfgiisg vfsvinilad algpgvvgih gdspyyflts afltaaiill htfwgvvffd
acerrrywal glvvgshllt sgltflnpwy easllpiyav tvsmglwafi taggslrsiq
rsllcrrqed srvmvysalr ipped
Variants:
L236I causes AD
Name: Tumor-associated hydroquinone oxidase (tNOX) (Cytosolic ovarian carcinoma antigen 1) (APK1 antigen) [Includes: Hydroquinone [NADH] oxidase ; Protein disulfide-thiol oxidoreductase ].
Accession: Q16206
Origin:
mqrdfrwlwv yeigyaadns rtlnvdstam tlpmsdptaw atamnnlgma plgiagqpil
pdfdpalgmm tgippitpmm pglgivpppi ppdmpvvkei ihcksctlfp pnpnlpppat
rerppgcktv fvgglpengt eqiivevfeq cgeiiairks kknfchirfa eeymvdkaly
lsgyrirlgs stdkkdtgrl hvdfaqardd lyeweckqrm lareerhrrr meeerlrpps
pppvvhysdh ecsivaeklk ddskfseavq tlltwierge vnrrsannfy smiqsanshv
rrlvnekaah ekdmeeakek fkqalsgili qaeqivavyh saskqkawdh ftkaqrknis
vwckqaeeir nihndelmgi rreeememsd deieemtetk eteesalvsq aealkeends
lrwqldayrn evellkqeqg kvhreddpnk eqqlkllqqa lqgmqqhllk vqeeykkkea
eleklkddkl qvekmlenlk ekescasrlc asnqdseypl ektmnsspik sereallvgi
istflhvhpf gasieyicsy lhrldnkict sdveclmgrl qhtfkqemtg vgaslekrwk
fcgfeglklt
Variants:
R123G causes AD
E311G causes AD
S326V causes AD
I328V causes AD
F332A causes AD
Name: Fibulin-1 precursor.
Accession: P23142.
Origin:
meraapsrrv plpllllggl allaagvdad vlleaccadg hrmathqkdc slpyateske
crmvqeqcch sqleelhcat gislaneqdr catphgdnas leatfvkrcc hccllgraaq
aqgqsceysl mvgyqcgqvf raccvksqet gdldvgglqe tdkiieveee qedpylndrc
rgggpckqqc rdtgdevvcs cfvgyqllsd gvscedvnec itgshscrlg escintvgsf
rcqrdsscgt gyeltednsc kdidecesgi hnclpdficq ntlgsfrcrp klqcksgfiq
dalgncidin eclsisapcp ightcinteg sytcqknvpn cgrgyhlnee gtrcvdvdec
appaepcgkg hrcvnspgsf rcecktgyyf dgisrmcvdv necqrypgrl cghkcentlg
sylcscsvgf rlsvdgrsce dinecssspc sqecanvygs yqcycrrgyq lsdvdgvtce
didecalptg ghicsyrcin ipgsfqcscp ssgyrlapng rncqdidecv tgihncsine
tcfniqggfr clafecpeny rrsaatlqqe ktdtvrciks crpndvtcvf dpvhtishtv
islptfreft rpeeiiflra itpphpasqa niifditegn lrdsfdiikr ymdgmtvgvv
rqvrpivgpf havlklemny vvggvvshrn vvnvrifvse ywf
Variants:
C36S causes tumor formation
R141Q causes tumor formation
R521S causes tumor formation
G548A causes tumor formation
R695H causes tumor formation
Name: Amyloid beta A4 protein precursor (APP) (ABPP) (Alzheimer's disease amyloid protein homolog) (Amyloidogenic glycoprotein) (AG) [Contains: Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (APP-C99); Beta-amyloid protein 42 (Beta-APP42); Beta-amyloid protein 40 (Beta-APP40); C83; P3(42); P3(40); Gamma-CTF(59) (Gamma-secretase C-terminal fragment 59) (Amyloid intracellular domain 59) (AID(59)) (APP-C59); Gamma-CTF(57) (Gamma-secretase C-terminal fragment 57) (Amyloid intracellular domain 57) (AID(57)) (APP-C57); Gamma-CTF(50) (Gamma-secretase C-terminal fragment 50) (Amyloid intracellular domain 50)
Accession: P12023
Origin:
mlpslallll aawtvralev ptdgnaglla epqiamfcgk lnmhmnvqng kwesdpsgtk
tcigtkegil qycqevypel qitnvveanq pvtiqnwckr grkqckthth ivipyrclvg
efvsdallvp dkckflhqer mdvcethlhw htvaketcse kstnlhdygm llpcgidkfr
gvefvccpla eesdsvdsad aeeddsdvww ggadtdyadg gedkvvevae eeevadveee
eadddedved gdeveeeaee pyeeatertt stattttttt esveevvrev cseqaetgpc
ramisrwyfd vtegkcvpff yggcggnrnn fdteeycmav cgsvstqsll kttseplpqd
pdklpttaas tpdavdkyle tpgdenehah fqkakerlea khrermsqvm reweeaerqa
knlpkadkka viqhfqekve sleqeaaner qqlvethmar veamlndrrr lalenyital
qavpprphhv fnmlkkyvra eqkdrqhtlk hfehvrmvdp kkaaqirsqv mthlrviyer
mnqslsllyn vpavaeeiqd evdellqkeq nysddvlanm iseprisygn dalmpsltet
kttvellpvn gefslddlqp whpfgvdsvp antenevepv darpaadrgl ttrpgsgltn
ikteeisevk mdaefghdsg fevrhqklvf faedvgsnkg aiiglmvggv viatvivitl
vmlkkkqyts ihhgvvevda avtpeerhls kmqqngyenp tykffeqmqn
Variants:
G221S causes AD
V375A causes AD
Name: C-jun-amino-terminal kinase interacting protein 1 (JNK-interacting protein 1) (JIP-1) (JNK MAP kinase scaffold protein 1) (Islet-brain-1) (IB-1) (Mitogen-activated protein kinase 8-interacting protein 1).
Accession: Q9UQF2.
Origin:
1 maeresgglg ggaasppaas pflglhiasp pnfrlthdis leefededls eitdecgisl
61 qckdtlslrp pragllsagg ggagsrlqae mlqmdlidat gdtpgaedde edddeeraar
121 rpgagppkae sgqepasrgq gqsqgqsqgp gsgdtyrpkr pttlnlfpqv prsqdtlnnn
181 slgkkhswqd rvsrsssplk tgeqtppheh iclsdelppq sgpapttdrg tstdspcrrs
241 tatqmappgg ppaappggrg hshrdrihyq advrleatee iyltpvqrpp daaeptsafl
301 pptesrmsvs sdpdpaayps tagrphpsis eeeegfdcls speraeppgg gwrgslgepp
361 pppraslssd tsalsydsvk ytlvvdehaq lelvslrpcf gdysdesdsa tvydncasvs
421 spyesaigee yeeaprpqpp aclsedstpd epdvhfskkf lnvfmsgrsr sssaesfglf
481 sciingeeqe qthraifrfv prhedelele vddpllvelq aedywyeayn mrtgargvfp
541 ayyaievtke pehmaalakn sdwvdqfrvk flgsvqvpyh kgndvlcaam qkiattrrlt
601 vhfnppsscv leisvrgvki gvkaddsqea kgnkcshffq lknisfcgyh pknnkyfgfi
661 tkhpadhrfa chvfvsedst kalaesvgra fqqfykqfve ytcptediyl e
Variants:
S59N causes non-insulin-dependent diabetes mellitus (NIDDM)
Name: Alpha-synuclein (Non-A beta component of AD amyloid) (Non-A4 component of amyloid precursor) (NACP).
Accession: O55042.
Origin:
1 mdvfmkglsk akegvvaaae ktkqgvaeaa gktkegvlyv gsktkegvvh gvttvaektk
61 eqvtnvggav vtgvtavaqk tvegagniaa atgfvkkdqm gkgeegypqe giledmpvdp
121 gseayempse egyqdyepea
Variants:
K58T causes non-Abeta component of Alzheimer's disease amyloid precursor protein
Name: Microtubule-associated protein tau (Neurofibrillary tangle protein) (Paired helical filament-tau) (PHF-tau).
Accession: P10636.
Origin:
1 maeprqefev medhagtygl gdrkdqggyt mhqdqegdtd aglkesplqt ptedgseepg
61 setsdakstp taedvtaplv degapgkqaa aqphteipeg ttaeeagigd tpsledeaag
121 hvtqepesgk vvqegflrep gppglshqlm sgmpgapllp egpreatrqp sgtgpedteg
181 grhapellkh qllgdlhqeg pplkgaggke rpgskeevde drdvdesspq dsppskaspa
241 qdgrppqtaa reatsipgfp aegaiplpvd flskvsteip asepdgpsvg rakgqdaple
301 ftfhveitpn vqkeqahsee hlgraafpga pgegpeargp slgedtkead lpepsekqpa
361 aaprgkpvsr vpqlkarmvs kskdgtgsdd kkaktstrss aktlknrpcl spklptpgss
421 dpliqpsspa vcpeppsspk hvssvtsrtg ssgakemklk gadgktkiat prgaappgqk
481 gqanatripa ktppapktpp ssgeppksgd rsgysspgsp gtpgsrsrtp slptpptrep
541 kkvavvrtpp kspssaksrl qtapvpmpdl knvkskigst enlkhqpggg kvqiinkkld
601 lsnvqskcgs kdnikhvpgg gsvqivykpv dlskvtskcg slgnihhkpg ggqvevksek
661 ldfkdrvqsk igsldnithv pgggnkkiet hkltfrenak aktdhgaeiv ykspvvsgdt
721 sprhlsnvss tgsidmvdsp qlatladevs aslakqgl
Variants:
D285N FTDP17
V289 causes suprnuclaer palsy
H441Y FTDP17
S447P FTDP17
K574T causes reduced ability to promote micortuble assemble
G589V FTDP17
N596K FTDP17
P618L causes reduced ability to promote microtuble assemble
S622N causes minimal parkinsonism
V654M causes ultrastructural and biochemical characteristics indistinguishable from Alzheimer's disease
G706R causes dementia resembling Pick’s disease
R723W causes accelerated aggregation of Tau into filaments
Name: Beta secretase 2 precursor (Beta-site APP-cleaving enzyme 2) (Aspartyl protease 1) (Asp 1) (ASP1) (Membrane-associated aspartic protease 1) (Memapsin-1) (Down region aspartic protease) (UNQ418/PRO852).
Accession: Q9Y5Z0
Origin:
mgalaralll pllaqwllra apelapapft lplrvaaatn rvvaptpgpg tpaerhadgl
alalepalas pagaanflam vdnlqgdsgr gyylemligt ppqklqilvd tgssnfavag
tphsyidtyf dtersstyrs kgfdvtvkyt qgswtgfvge dlvtipkgfn tsflvniati
fesenfflpg ikwngilgla yatlakpsss letffdslvt qanipnvfsm qmcgaglpva
gsgtnggslv lggiepslyk gdiwytpike ewyyqieilk leiggqslnl dcreynadka
ivdsgttllr lpqkvfdavv eavaraslip efsdgfwtgs qlacwtnset pwsyfpkisi
ylrdenssrs fritilpqly iqpmmgagln yecyrfgisp stnalvigat vmegfyvifd
raqkrvgfaa spcaeiagaa vseisgpfst edvasncvpa qslsepilwi vsyalmsvcg
aillvlivll llpfrcqrrp rdpevvndes slvrhrwk
Variants:
A36T causes unknown
Name: Transforming growth factor-beta induced protein IG-H3 precursor (Beta IG-H3) (Kerato-epithelin) (RGD-containing collagen associated protein) (RGD-CAP).
Accession: Q15582.
Origin:
malfvrllal alalalgpaa tlagpakspy qlvlqhsrlr grqhgpnvca vqkvigtnrk
yftnckqwyq rkicgkstvi syeccpgyek vpgekgcpaa lplsnlyetl gvvgstttql
ytdrteklrp emegpgsfti fapsneawas lpaevldslv snvniellna lryhmvgrrv
ltdelkhgmt ltsmyqnsni qihhypngiv tvncarllka dhhatngvvh lidkvistit
nniqqiieie dtfetlraav aasglntmle gngqytllap tneafekips etlnrilgdp
ealrdllnnh ilksamcaea ivaglsvetl egttlevgcs gdmltingka iisnkdilat
ngvihyidel lipdsaktlf elaaesdvst aidlfrqagl gnhlsgserl tllaplnsvf
kdgtppidah trnllrnhii kdqlaskyly hgqtletlgg kklrvfvyrn slcienscia
ahdkrgrygt lftmdrvltp pmgtvmdvlk gdnrfsmlva aiqsagltet lnregvytvf
aptneafral pprersrllg dakelanilk yhigdeilvs ggigalvrlk slqgdklevs
lknnvvsvnk epvaepdima tngvvhvitn dlqppanrpq ergdeladsa leifkqasaf
srasqrsvrl apvyqkller mkh
Variants: corneal dystrophy lattice type I (CDL1)
R124C in CDL1
R124H in ACD
R124L in CDRB
R124S in CDGG1 late onset
I200F
P501Tin CDL3a
L518P in CDL1
L527R in CDL1 late onset
T538R in CDL1 delayed onset
N544S in CDL
A546T in CDL3A
R555Q in CDTB
R555W in CDGG1
N622H in asymmetric lattice corneal dystrophy
G623H in CDL1
H626P in CDL1
H626R in CDL1
V631D in CDL1
Name: Serum amyloid P-component precursor (SAP) (9.5S alpha-1-glycoprotein).
Accession: P02743
Origin:
mnkpllwisv ltslleafah tdlsgkvfvf presvtdhvn litplekplq nftlcfrays
dlsrayslfs yntqgrdnel lvykervgey slyigrhkvt skviekfpap vhicvswess
sgiaefwing tplvkkglrq gyfveaqpki vlgqeqdgyg gkfdrsqsfv geigdlymwd
svlppenils ayqgtplpan ildwqalnye irgyviikpl vwv
Variants:
S101P causes AD
L152G causes AD
E155G causes AD
S158G causes AD
Name: Alpha-synuclein (Non-A beta component of AD amyloid) (Non-A4 component of amyloid precursor) (NACP).
Accession: P37840
Origin:
mdvfmkglsk akegvvaaae ktkqgvaeaa gktkegvlyv gsktkegvvh gvatvaektk
eqvtnvggav vtgvtavaqk tvegagsiaa atgfvkkdql gkneegapqe giledmpvdp
dneayempse egyqdyepea
Variants:
A30P in PARK1
A53T in PARK1
Name: 3-hydroxyacyl-CoA dehydrogenase type II (Type II HADH) (Endoplasmic reticulum-associated amyloid beta-peptide binding protein) (Short-chain type dehydrogenase/reductase XH98G2).
Accession: Q99714
Origin:
maaacrsvkg lvavitggas glglataerl vgqgasavll dlpnsggeaq akklgnncvf
apadvtsekd vqtalalakg kfgrvdvavn cagiavaskt ynlkkgqtht ledfqrvldv
nlmgtfnvic lvagemgqne pdqggqrgvi intasvaafe gqvgqaaysa skggivgmtl
piardlapig irvmtiapgl fgtplltslp ekvcnflasq vpfpsrlgdp aeyahlvqai
ienpflngev irldgairmq p
Variants:
L122V in MHBD (2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency)
R130C in MHBD
Name: Transthyretin precursor (Prealbumin) (TBPA) (TTR) (ATTR).
Accession: P02766
Origin:
mashrllllc laglvfvsea gptgtgeskc plmvkvldav rgspainvav hvfrkaaddt
wepfasgkts esgelhgltt eeefvegiyk veidtksywk algispfheh aevvftands
gprrytiaal lspysystta vvtnpke
Variants:
G26S in amyloidosis
C30R in amyloidosis
D38E in amyloidosis
D38G in amyloidosis
Y40I in amyloidosis
R41P
P44S in amyloidosis
V48M in amyloidosis in amyloidosis
V50A in amyloidosis
V50L in amyloidosis
V50M in amyloidosis most frequent mutation
F53I in amyloidosis
F53L in amyloidosis
A56P in amyloidosis
E62G in amyloidosis
A65D in amyloidosis
A65T in amyloidosis
G67A in amyloidosis
G67R in amyloidosis
G67V in amyloidosis
T69A in amyloidosis
S70I in amyloidosis
S72P in amyloidosis
E74G in amyloidosis
L75P in amyloidosis
L78H
L78R in amyloidosis
T79K in amyloidosis
T80A in amyloidosis
E81K in amyloidosis
T84L in amyloidosis
I88L in amlyoid cardiomyopathy
Y89H in amyloidosis VII
K90N in amyloidosis
V91A in amyloidosis
I93V in amyloidosis
D94H
S97Y in amyloidosis
I104N in vitrous amyloid
I104S in amyloidosis
E109K in amyloidosis
E109Q in amyloidosis
H110N
A111S in amyloidosis
A117G in amyloidosis
G121S
P122R
R124C
I127V in amyloidosis
A129T in hperthyroxinemia
L131M in amyloidosis
Y134C in amyloidosis
Y134H in amyloidosis
Y136S in amyloidosis
Y136V
T139M in Chicago variant
V142I in a disorder that resembles senile systemic amyloidosis
Name: Major prion protein precursor (PrP) (PrP27-30) (PrP33-35C) (ASCR) (CD230 antigen).
Accession: P04156
Origin:
1 manlgcwmlv lfvatwsdlg lckkrpkpgg wntggsrypg qgspggnryp pqggggwgqp
61 hgggwgqphg ggwgqphggg wgqphgggwg qgggthsqwn kpskpktnmk hmagaaaaga
121 vvgglggyml gsamsrpiih fgsdyedryy renmhrypnq vyyrpmdeys nqnnfvhdcv
181 nitikqhtvt tttkgenfte tdvkmmervv eqmcitqyer esqayyqrgs smvlfssppv
241 illisflifl ivg
Variants:
P102L in GSD and early onset dementia
P105L in GSD
A117V linked to development of dementing Derstmam-Straussler disease
M129V polymorphism
G131V in GSD
N171S in schizuaffective
D178N in FFI and CJD
V180I in CJD
T183S in familial spongiform encephalopathy
M187R in GSD
T188K in early onset dementia
T188R
E196K in CJD
R198S in GSD atypical form with neurofibrillary tangles
E200K in CJD
D202N in GSD
V203I in CJD
R208H in CJD
V210I in CJD
E211Q in CJD
Q212P in GSD
Q217R in GSD with neurofibrillary tangles
E219K
M232R in CJD
P238S
Name: Gelsolin precursor, plasma (Actin-depolymerizing factor) (ADF) (Brevin) (AGEL).
Accession: P06396.
Origin:
1 maphrpapal lcalslalca lslpvraata srgasqagap qgrvpearpn smvvehpefl
61 kagkepglqi wrvekfdlvp vptnlygdff tgdayvilkt vqlrngnlqy dlhywlgnec
121 sqdesgaaai ftvqlddyln gravqhrevq gfesatflgy fksglkykkg gvasgfkhvv
181 pnevvvqrlf qvkgrrvvra tevpvswesf nngdcfildl gnnihqwcgs nsnryerlka
241 tqvskgirdn ersgrarvhv seegtepeam lqvlgpkpal pagtedtake daanrklakl
301 ykvsngagtm svslvadenp faqgalksed cfildhgkdg kifvwkgkqa nteerkaalk
361 tasdfitkmd ypkqtqvsvl peggetplfk qffknwrdpd qtdglglsyl sshianverv
421 pfdaatlhts tamaaqhgmd ddgtgqkqiw riegsnkvpv dpatygqfyg gdsyiilyny
481 rhggrqgqii ynwqgaqstq devaasailt aqldeelggt pvqsrvvqgk epahlmslfg
541 gkpmiiykgg tsreggqtap astrlfqvra nsagatrave vlpkagalns ndafvlktps
601 aaylwvgtga seaektgaqe llrvlraqpv qvaegsepdg fwealggkaa yrtsprlkdk
661 kmdahpprlf acsnkigrfv ieevpgelmq edlatddvml ldtwdqvfvw vgkdsqeeek
721 tealtsakry ietdpanrdr rtpitvvkqg feppsfvgwf lgwdddywsv dpldramael
781 aa
Variants:
D214N in FAF (familial amyloidosis finnish type)
D214Y in FAF
Name: Apolipoprotein A-I precursor (Apo-AI).
Accession: P02647
Origin:
1 mkaavltlav lfltgsqarh fwqqdeppqs pwdrvkdlat vyvdvlkdsg rdyvsqfegs
61 algkqlnlkl ldnwdsvtst fsklreqlgp vtqefwdnle keteglrqem skdleevkak
121 vqpylddfqk kwqeemelyr qkveplrael qegarqklhe lqeklsplge emrdrarahv
181 dalrthlapy sdelrqrlaa rlealkengg arlaeyhaka tehlstlsek akpaledlrq
241 gllpvlesfk vsflsaleey tkklntq
Variants:
P27H IN Munster 3-C
P27R causes human apolipoprotein A-I variant
P28R in Munster 3-B
R34L causes human apolipoprotein A-I variant
G50R in amyloid fibrils from patients with polyneuropathic amyloidosis
L84P in systemic mon-neuropathic amyloidosis
T92I causes human apolipoprotein A-I variant
D113E causes human apolipoprotein A-I variant
A119D causes human apolipoprotein A-I variant
D126H causes human apolipoprotein A-I variant
D127N in Munster 3-A
K131M causes human apolipoprotein A-I variant
W132R causes human apolipoprotein A-I variant
E134K causes human apolipoprotein A-I variant
R160K causes human apolipoprotein A-I variant
E163G causes human apolipoprotein A-I variant
P167R causes human apolipoprotein A-I variant
L168R causes human apolipoprotein A-I variant
E171V causes human apolipoprotein A-I variant
R184P causes human apolipoprotein A-I variant
P189R causes human apolipoprotein A-I variant
R197C associated with decreased HDL levels
E222Kin Munster-4
Name: Serum amyloid A protein precursor (SAA) [Contains: Amyloid protein A (Amyloid fibril protein AA)].
Accession: P02735
Origin:
1 mklltglvfc slvlgvssrs ffsflgeafd gardmwrays dmreanyigs dkyfhargny
61 daakrgpggv waaeaisdar eniqrffghg aedsladqaa newgrsgkdp nhfrpaglpe
121 ky
Variants: All cause secondary amyloidosis
G15S
V70A in 2-alphs, 2-beta, and 1-gamma
A75V in 2-alpha, 2-beta and 1-beta
FF86..87LT in 2-alpha and 2-beta
H89R in 2-beta
G90D in 1-beta
E102K in 2-alpha and 2-beta
K108 in 2-alpha and 2-beta
Name: Serum amyloid A protein (SAA) [Contains: Amyloid protein A (Amyloid fibril protein AA)].
Accession: P19857
Origin:
1 llsflgeaar gtwdmirayn dmreanyiga dkyfhargny daakrgpgga waakvisdar
61 enfqrftdrf sfggsgrgae dsradqaane wgrsgkdpnh frphglpdky
Variants: precursor of amyloid protein A, which is formed by the removal of residues from the C-terminal end.
I16L
K44Q
A59G
G78A
Name: Serum amyloid A protein precursor (SAA).
Accession: P02740
Origin:
1 mrlcicfvll avivcasadn pftrggrfvl daaggawdml rayrdmrean higadkyfha
61 rgnydaarrg pggawaarvi sdarenwqgg vsgrgaedtr adqeanawgr nggdpnryrp
121 pglpsky
Variants:
G89S in allele A
A107V in allele A
Name: Serum amyloid A protein precursor (SAA) [Contains: Amyloid protein A (Amyloid fibril protein AA)].
Accession: P19708.
Origin:
1 mklfpgllfc slvlgvsgqw ysfvseaaqg awdmwraysd mreanyknsd kyfhargnyd
61 aaqrgpggaw aakvisdare nsqritdllr fgdsghgaed skadqaanew grsgkdpnhf
121 rpaglpdky
Variants:
S25G causes secondary amyloidosis
W35C causes secondary amyloidosis
LLR88..90RLK causes secondary amyloidosis
Name: Serum amyloid A-2 protein precursor [Contains: Amyloid protein A (Amyloid fibril protein AA)].
Accession: P02739
Origin:
1 mklftglifc slvlgvssqw ysfigeavqg awdmyraysd mreanyknsd kyfhargnyd
61 aaqrgpggaw aakvisdare rsqrvtdlfk ygdsghgved skadqaanew grsgkdpnhf
121 rpsglpdky
Variants:
I24F causes secondary amyloidosis
Name: Serum amyloid A-2 protein precursor [Contains: Amyloid protein A (Amyloid fibril protein AA)].
Accession: P05367
Origin:
1 mklltslvfc slllgvchgg ffsfigeafq gagdmwrayt dmkeagwkdg dkyfhargny
61 daaqrgpggv waaekisdar esfqeffgrg hedtmadqea nrhgrsgkdp nyyrppglpa
121 ky
Variants:
A120D in strain SJL/J
Name: Islet amyloid polypeptide precursor (Diabetes-associated peptide) (DAP) (Amylin) (Insulinoma amyloid peptide).
Accession: P10997
Origin:
1 mgilklqvfl ivlsvalnhl katpieshqv ekrkcntatc atqrlanflv hssnnfgail
61 sstnvgsnty gkrnavevlk replnylpl
Variants: IAPP is the peptide subunit of amyloid found in pancreatic islets of type 2 diabetic patients and in insulinomas
S58G
Name: 24-dehydrocholesterol reductase precursor (3-beta-hydroxysterol delta-24-reductase) (Seladin-1) (Diminuto/dwarf1 homolog).
Accession: Q15392
Origin:
1 mepavslavc allfllwvrl kglefvlihq rwvfvclfll plslifdiyy yvrawvvfkl
61 ssaprlheqr vrdiqkqvre wkeqgsktfm ctgrpgwltv slrvgkykkt hkniminlmd
121 ilevdtkkqi vrveplvtmg qvtalltsig wtlpvlpeld dltvgglimg tgiessshky
181 glfqhictay elvladgsfv rctpsensdl fyavpwscgt lgflvaaeir iipakkyvkl
241 rfepvrglea icakfthesq rqenhfvegl lysldeavim tgvmtdeaep sklnsignyy
301 kpwffkhven ylktnregle yiplrhyyhr htrsifwelq diipfgnnpi frylfgwmvp
361 pkisllkltq getlrklyeq hhvvqdmlvp mkclqqalht fqndihvypi wlcpfilpsq
421 pglvhpkgne aelyidigay geprvkhfea rscmrqlekf vrsvhgfqml yadcymnree
481 fwemfdgsly hklreklgcq dafpevydki ckaarh
Variants:
E191K in desmosterolosis
N294T in desmosterolosis
K306N in desmosterolosis
Y471S in desmosterolosis
Name: Serum amyloid P-component precursor (SAP).
Accession: P12246
Origin:
1 mdklllwmfv ftsllseafc qtdlkrkvfv fpresetdhv kliphlekpl qnftlcfrty
61 sdlsrsqslf sysvkgrdne lliykekvge yslyigqskv tvrgmeeyls pvhlcttwes
121 ssgivefwvn gkpwvkkslq reytvkapps ivlgqeqdny gggfqrsqsf vgefsdlymw
181 dyvltpqdil fvyrdspvnp nilnwqalny eingyvvirp rvwd
Conflicts: SAP is a precursor of amyloid component P which is found in basement membrane and associated with amyloid deposits.
I151V
G154R
Name: Major prion protein precursor (PrP) (PrP27-30) (PrP33-35C).
Accession: P40258
Origin:
1 manlgcwmlv lfvatwsdlg lckkrpkpgg wntggsrypg qgspggnryp pqgggwgqph
61 gggwgqphgg gwgqphgggw gqphgggwgq phgggwgqgg gthnqwnkps kpktnmkhma
121 gaaaagavvg glggymlgsa msrplihfgn dyedryyren myrypsqvyy rpvdqysnqn
181 nfvhdcvnvt ikqhtvtttt kgenftetdv kmmervveqm citqyekesq ayyqrgssmv
241 lfssppvill isfliflivg
Variants: PrP is found in high quantity in the brain of humans and animals infected with degenerative neurological diseases such as kuru, Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler syndrome (GSS), scrapie, bovine spongiform encephalopathy (BSE), transmissible mink encephalopathy (TME), etc.
C6Y
R171K
Name: Tumor-associated calcium signal transducer 2 precursor (Pancreatic carcinoma marker protein GA733-1) (Cell surface glycoprotein Trop-2).
Accession: P09758
Origin:
1 margpglapp plrlpllllv laavtghtaa qdnctcptnk mtvcspdgpg grcqcralgs
61 gmavdcstlt skclllkarm sapknartlv rpsehalvdn dglydpdcdp egrfkarqcn
121 qtsvcwcvns vgvrrtdkgd lslrcddlvr thhilidlrh rptagafnhs dldaelrrlf
181 reryrlhpkf vaavhyeqpt iqielrqnts qkaagevdig daayyferdi kgeslfqgrg
241 gldlrvrgep lqvertliyy ldeippkfsm krltagliav ivvvvvalva gmavlvitnr
301 rksgkykkve ikelgelrke psl
Variants: GDLD is an autosomal recessive disorder characterized by grayish corneal amyloid deposits that cause severe visual impairment.
D173A causes gelatinous droplike corneal dystrophy
E216D
Name: Serum amyloid A-2 protein precursor
Accession: P22000.
Origin:
1 mkllsglllc slvlgvsgqg wfsfigeavr gagdmwrays dmreanyina dkyfhargny
61 daaqrgpggv waakvisdvr edlqrlmghg aedsmadqaa newgrsgkdp nhfrpkglpd
121 ky
Variants:
A96D causes secondary amyloidosis
Name: Serum amyloid P-component precursor (SAP).
Accession: P23680
Origin:
1 mdklllwmsv ftsllseafa qtdlnqkvfv fpresetdyv klipwlekpl qnftlcfray
61 sdlsrsqslf sysvnsrdne lliykdkvgq yslyignskv tvrgleefps pihfctswes
121 ssgiaefwvn gkpwvkkglq kgytvkssps ivlgqeqdty gggfdktqsf vgeiadlymw
181 dsvltpenih svdrgfppnp nildwralny eingyvvikp rmwdnkss
Variants: SAP is a precursor of amyloid component P which is found in the basement membrane and associated with amyloid deposits.
D86A
VG88.89LE
Name: Presenilin 2 (PS-2) (STM-2) (E5-1) (AD3LP) (AD5).
Assession: P49810
Origin:
1 mltfmasdse eevcdertsl msaesptprs cqegrqgped gentaqwrsq eneedgeedp
61 dryvcsgvpg rppgleeelt lkygakhvim lfvpvtlcmi vvvatiksvr fytekngqli
121 ytpftedtps vgqrllnsvl ntlimisviv vmtiflvvly kyrcykfihg wlimsslmll
181 flftyiylge vlktynvamd yptllltvwn fgavgmvcih wkgplvlqqa ylimisalma
241 lvfikylpew sawvilgais vydlvavlcp kgplrmlvet aqernepifp aliyssamvw
301 tvgmakldps sqgalqlpyd pemeedsyds fgepsypevf eppltgypge eleeeeergv
361 klglgdfify svlvgkaaat gsgdwnttla cfvailiglc ltllllavfk kalpalpisi
421 tfglifyfst dnlvrpfmdt lashqlyi
Variants:
R62H caused by AD4
T122P caused by AD4
N141I caused by AD4
V148I cause by AD4
M239V caused by AD4
PBD code: 1Q1C
Chain identifiers: A
Start position query: 325
Start position PDB protein: 130
End position query: 360
End position PDB protein: 170
Name: Presenilin 1 (PS-1) (S182 protein).
Assession: P49769
Origin:
1 mteipaplsy fqnaqmseds hsssairsqn dsqerqqqhd rqrldnpepi sngrpqsnsr
61 qvveqdeeed eeltlkygak hvimlfvpvt lcmvvvvati ksvsfytrkd gqliytpfte
121 dtetvgqral hsilnaaimi svivimtill vvlykyrcyk vihawliiss llllfffsfi
181 ylgevfktyn vavdyvtval liwnfgvvgm iaihwkgplr lqqaylimis almalvfiky
241 lpewtawlil avisvydlva vlcpkgplrm lvetaqerne tlfpaliyss tmvwlvnmae
301 gdpeaqrrvp knpkyntqra eretqdsgsg nddggfseew eaqrdshlgp hrstpesraa
361 vqelsgsilt sedpeergvk lglgdfifys vlvgkasata sgdwnttiac fvailiglcl
421 tllllaifkk alpalpisit fglvfyfatd ylvqpfmdql afhqfyi
Variant:
S9T caused by Strain SAM P8
D40E caused by Strain SAM P8
E67CM caused by Strain SAM P8
ER 321..322RRD caused by Strain SAM P8
PBD code: 1P22
Chain identifiers: A
Start position query: 253
Start position PDB protein: 258
End position query: 313
End position PDB protein: 426
PBD code: 1SMY
Chain identifiers: D/N
Start position query: 300
Start position PDB protein: 300
End position query: 376
End position PDB protein: 375
Name: Presenilin 1 (PS-1) (S182 protein).
Assession: P49768
Origin:
mtelpaplsy fqnaqmsedn hlsntvrsqn dnrerqehnd rrslghpepl sngrpqgnsr
qvveqdeeed eeltlkygak hvimlfvpvt lcmvvvvati ksvsfytrkd gqliytlfte
dtetvgqral hsilnaaimi svivvmtill vvlykyrcyk vihawliiss llllfffsfi
ylgevfktyn vavdyitval liwnfgvvgm isihwkgplr lqqaylimis almalvfiky
lpewtawlil avisvydlva vlcpkgplrm lvetaqerne tlfpaliyss tmvwlvnmae
gdpeaqrrvs knskynaest eresqdtvae nddggfseew eaqrdshlgp hrstpesraa
vqelsssila gedpeergvk lglgdfifys vlvgkasata sgdwnttiac fvailiglcl
tllllaifkk alpalpisit fglvfyfatd ylvqpfmdql afhqfyi
Variants
A79V caused by AD3
V82L caused by AD3
C92S caused by AD3
V96F caused by AD3
F105L caused by AD3
L113P caused by AD3 frontemporal dementia
Y115C caused by AD3
T116N caused by AD3
P117L caused by AD3
E120D caused by AD3 PDb code: 1S14
E120K caused by AD3
R128G caused by AD3
N135D caused by AD3
M139I caused by AD3
M139K caused by AD3
M139T caused by AD3
M139V caused by AD3
I143F caused by AD3
I143T caused by AD3
M146I caused by AD3
M146L caused by AD3
M146V caused by AD3
T147I caused by AD3
H163R caused by AD3
H163Y caused by AD3
W165C caused by AD3
J166P caused by AD3
S169L caused by AD3
1169P caused by AD3
L171P caused by AD3
L173W caused by AD3
L174M caused by AD3
F205L caused by AD3
G206A caused by AD3
G209R caused by AD3
G209V caused by AD3
I213T caused by AD3
L219P caused by AD3
A231T caused by AD3
A231V caused by AD3
M233L caused by AD3
M233T caused by AD3
L235P caused by AD3
A246E caused by AD3
L250S caused by AD3
A260V caused by AD3
L262F caused by AD3
C263R caused by AD3
P264L caused by AD3
G266S caused by AD3
P267S caused by AD3
P267T caused by AD3
R269G caused by AD3
R269H caused by AD3
L271V caused by AD3
R278T caused by AD3
E280A caused by AD3
E280G caused by AD3
L282R caused by AD3
A285V caused by AD3
L286V caused by AD3
S289C caused by AD3
E318G caused by AD3
G378E caused by AD3
G384A caused by AD3
S390I caused by AD3
L392V caused by AD3
N405S caused by AD3
A409T caused by AD3
C410Y caused by AD3
A426P caused by AD3
P436Q caused by AD3
P436S caused by AD3
PBD code: 3LAD
Chain identifiers: A/B
Start position query: 277
Start position PDB protein: 346
End position query: 379
End position PDB protein: 445
PBD code:
1SMY 1IW7
Chain identifiers: D/N
Start position query: 339
Start position PDB protein: 338
End position query: 376
End position PDB protein: 375
Name: Apolipoprotein A-II precursor (Apo-AII).
Assession: P09813
Origin:
1 mkllamvall vticslegal vkrqadgpdm qslftqyfqs mteygkdlve kaktseiqsq
61 vkayfekthe qltplvrsag tslvnffssl mnleekpapa ak
Variants: Defects in Apoa2 are the cause of senescence accelerated mouse (SAM), the senile amyloid is a mutated apolipoprotein A-II.
P28Q causes SAM
E43D Causes IN STRAINS C57BL/6J AND DBA/2J
L48F causes PCR
V49M causes IN STRAINS C57BL/6J AND DBA/2J
V61A causes IN STRAINS C57BL/6J AND DBA/2J
PBD code: 1L6L
Chain identifiers: A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/S/T/U/V/W/X/Y/Z/1/2/3/4/5/6/7/8
Start position query: 24
Start position PDB protein: 1
End position query: 98
End position PDB protein: 75
PBD code: 1L6K
Chain identifiers: A/B/C/D/E/F/G/H/I/J/K/L
Start position query: 24
Start position PDB protein: 1
End position query: 98
End position PDB protein: 75
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