Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.9999999999867 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:228494790G>AN/A show variant in all transcripts   IGV
HGNC symbol OBSCN
Ensembl transcript ID ENST00000366707
Genbank transcript ID N/A
UniProt peptide Q5VST9
alteration type single base exchange
alteration region CDS
DNA changes c.5017G>A
cDNA.13704G>A
g.98960G>A
AA changes G1673R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1673
frameshift no
known variant Reference ID: rs435776
databasehomozygous (A/A)heterozygousallele carriers
1000G2478511098
ExAC110981057121669
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6350
0.3580
(flanking)0.1130
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased98952wt: 0.65 / mu: 0.78wt: GCTGCTGGTACGCGG
mu: GCTGCTGGTACGCAG		 TGCT|ggta
Donor marginally increased98957wt: 0.9796 / mu: 0.9810 (marginal change - not scored)wt: TGGTACGCGGAGTGG
mu: TGGTACGCAGAGTGG		 GTAC|gcgg
Donor marginally increased98962wt: 0.9954 / mu: 0.9971 (marginal change - not scored)wt: CGCGGAGTGGAGCAG
mu: CGCAGAGTGGAGCAG		 CGGA|gtgg
Donor gained989600.81mu: TACGCAGAGTGGAGC CGCA|gagt
distance from splice site 79
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1673QDGAAAELLVRGVEQEDAGDYTCD
mutated  not conserved    1673QDGAAAELLVRRVEQEDAG
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000023096  1038QDGAAAELLVHGVEQEDAGDYTC
Fcatus  not conserved  ENSFCAG00000000673  4039QEGRAAELWVHHTEQEDAGHYTC
Mmusculus  not conserved  ENSMUSG00000061462  4267QQGCVAELLLRDLRREDA
Ggallus  not conserved  ENSGALG00000004754  4046LSGCTAELVIHNAEPEDASDYTC
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000043309  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
16221719DOMAINIg-like 17.lost
16671670COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
16701677STRANDlost
16731674CONFLICTRV -> HM (in Ref. 1; CAC85750).lost
16771679CONFLICTVGC -> SGY (in Ref. 1; CAC85750).might get lost (downstream of altered splice site)
16801685STRANDmight get lost (downstream of altered splice site)
16901692TURNmight get lost (downstream of altered splice site)
16921692CONFLICTE -> D (in Ref. 1; CAC44768/CAC85750).might get lost (downstream of altered splice site)
16961700STRANDmight get lost (downstream of altered splice site)
16981698DISULFIDBy similarity.might get lost (downstream of altered splice site)
17041704CONFLICTQ -> R (in Ref. 1; CAC44768/CAC85750).might get lost (downstream of altered splice site)
17071712STRANDmight get lost (downstream of altered splice site)
17101710CONFLICTQ -> H (in Ref. 1; CAC44768/CAC85750).might get lost (downstream of altered splice site)
17231723DISULFIDBy similarity.might get lost (downstream of altered splice site)
17311808DOMAINFibronectin type-III 2.might get lost (downstream of altered splice site)
17911791DISULFIDBy similarity.might get lost (downstream of altered splice site)
18091894DOMAINIg-like 18.might get lost (downstream of altered splice site)
18301830DISULFIDBy similarity.might get lost (downstream of altered splice site)
18481848CONFLICTL -> P (in Ref. 1; CAC44768).might get lost (downstream of altered splice site)
18801880DISULFIDBy similarity.might get lost (downstream of altered splice site)
18961982DOMAINIg-like 19.might get lost (downstream of altered splice site)
19872071DOMAINIg-like 20.might get lost (downstream of altered splice site)
20142014CONFLICTP -> A (in Ref. 1; CAC85750).might get lost (downstream of altered splice site)
20772162DOMAINIg-like 21.might get lost (downstream of altered splice site)
21652249DOMAINIg-like 22.might get lost (downstream of altered splice site)
21872187DISULFIDBy similarity.might get lost (downstream of altered splice site)
22372237DISULFIDBy similarity.might get lost (downstream of altered splice site)
22892380DOMAINIg-like 23.might get lost (downstream of altered splice site)
23112311DISULFIDBy similarity.might get lost (downstream of altered splice site)
23612361DISULFIDBy similarity.might get lost (downstream of altered splice site)
24682559DOMAINIg-like 24.might get lost (downstream of altered splice site)
24902490DISULFIDBy similarity.might get lost (downstream of altered splice site)
25402540DISULFIDBy similarity.might get lost (downstream of altered splice site)
25642643DOMAINIg-like 25.might get lost (downstream of altered splice site)
26462730DOMAINIg-like 26.might get lost (downstream of altered splice site)
26682668DISULFIDBy similarity.might get lost (downstream of altered splice site)
27182718DISULFIDBy similarity.might get lost (downstream of altered splice site)
27362823DOMAINIg-like 27.might get lost (downstream of altered splice site)
27452750STRANDmight get lost (downstream of altered splice site)
27532758STRANDmight get lost (downstream of altered splice site)
27712776STRANDmight get lost (downstream of altered splice site)
27842788STRANDmight get lost (downstream of altered splice site)
27912796STRANDmight get lost (downstream of altered splice site)
28012803TURNmight get lost (downstream of altered splice site)
28072811STRANDmight get lost (downstream of altered splice site)
28142818STRANDmight get lost (downstream of altered splice site)
28202823STRANDmight get lost (downstream of altered splice site)
28262908DOMAINIg-like 28.might get lost (downstream of altered splice site)
28292831STRANDmight get lost (downstream of altered splice site)
28362838STRANDmight get lost (downstream of altered splice site)
28442846STRANDmight get lost (downstream of altered splice site)
28482848DISULFIDBy similarity.might get lost (downstream of altered splice site)
28492854STRANDmight get lost (downstream of altered splice site)
28592863STRANDmight get lost (downstream of altered splice site)
28692877STRANDmight get lost (downstream of altered splice site)
28802887STRANDmight get lost (downstream of altered splice site)
28902892TURNmight get lost (downstream of altered splice site)
28942899STRANDmight get lost (downstream of altered splice site)
28982898DISULFIDBy similarity.might get lost (downstream of altered splice site)
29042911STRANDmight get lost (downstream of altered splice site)
29202999DOMAINIg-like 29.might get lost (downstream of altered splice site)
29252928STRANDmight get lost (downstream of altered splice site)
29312938STRANDmight get lost (downstream of altered splice site)
29372937DISULFIDBy similarity.might get lost (downstream of altered splice site)
29472952STRANDmight get lost (downstream of altered splice site)
29572966STRANDmight get lost (downstream of altered splice site)
29692976STRANDmight get lost (downstream of altered splice site)
29792981TURNmight get lost (downstream of altered splice site)
29832988STRANDmight get lost (downstream of altered splice site)
29872987DISULFIDBy similarity.might get lost (downstream of altered splice site)
29963001STRANDmight get lost (downstream of altered splice site)
30033092DOMAINIg-like 30.might get lost (downstream of altered splice site)
30063009STRANDmight get lost (downstream of altered splice site)
30133017STRANDmight get lost (downstream of altered splice site)
30273030STRANDmight get lost (downstream of altered splice site)
30373042STRANDmight get lost (downstream of altered splice site)
30483050STRANDmight get lost (downstream of altered splice site)
30573059TURNmight get lost (downstream of altered splice site)
30633065STRANDmight get lost (downstream of altered splice site)
30703072TURNmight get lost (downstream of altered splice site)
30743080STRANDmight get lost (downstream of altered splice site)
30873092STRANDmight get lost (downstream of altered splice site)
30953183DOMAINIg-like 31.might get lost (downstream of altered splice site)
31173117DISULFIDBy similarity.might get lost (downstream of altered splice site)
31263126CONFLICTV -> M (in Ref. 1; CAC44768).might get lost (downstream of altered splice site)
31673167DISULFIDBy similarity.might get lost (downstream of altered splice site)
31843268DOMAINIg-like 32.might get lost (downstream of altered splice site)
31873189STRANDmight get lost (downstream of altered splice site)
31943197STRANDmight get lost (downstream of altered splice site)
32023210STRANDmight get lost (downstream of altered splice site)
32063206DISULFIDBy similarity.might get lost (downstream of altered splice site)
32163219STRANDmight get lost (downstream of altered splice site)
32273235STRANDmight get lost (downstream of altered splice site)
32383243STRANDmight get lost (downstream of altered splice site)
32483250HELIXmight get lost (downstream of altered splice site)
32523258STRANDmight get lost (downstream of altered splice site)
32563256DISULFIDBy similarity.might get lost (downstream of altered splice site)
32613270STRANDmight get lost (downstream of altered splice site)
32733356DOMAINIg-like 33.might get lost (downstream of altered splice site)
32953295DISULFIDBy similarity.might get lost (downstream of altered splice site)
33443344DISULFIDBy similarity.might get lost (downstream of altered splice site)
33593444DOMAINIg-like 34.might get lost (downstream of altered splice site)
33713374STRANDmight get lost (downstream of altered splice site)
33833383DISULFIDBy similarity.might get lost (downstream of altered splice site)
33863388STRANDmight get lost (downstream of altered splice site)
33923397STRANDmight get lost (downstream of altered splice site)
34023405STRANDmight get lost (downstream of altered splice site)
34073410STRANDmight get lost (downstream of altered splice site)
34123421STRANDmight get lost (downstream of altered splice site)
34243426TURNmight get lost (downstream of altered splice site)
34303433STRANDmight get lost (downstream of altered splice site)
34323432DISULFIDBy similarity.might get lost (downstream of altered splice site)
34383441STRANDmight get lost (downstream of altered splice site)
34433446STRANDmight get lost (downstream of altered splice site)
34493532DOMAINIg-like 35.might get lost (downstream of altered splice site)
34523454STRANDmight get lost (downstream of altered splice site)
34593462STRANDmight get lost (downstream of altered splice site)
34673475STRANDmight get lost (downstream of altered splice site)
34713471DISULFIDBy similarity.might get lost (downstream of altered splice site)
34803483STRANDmight get lost (downstream of altered splice site)
34903509STRANDmight get lost (downstream of altered splice site)
35123514TURNmight get lost (downstream of altered splice site)
35163522STRANDmight get lost (downstream of altered splice site)
35203520DISULFIDBy similarity.might get lost (downstream of altered splice site)
35253534STRANDmight get lost (downstream of altered splice site)
35373620DOMAINIg-like 36.might get lost (downstream of altered splice site)
35543560STRANDmight get lost (downstream of altered splice site)
35593559DISULFIDBy similarity.might get lost (downstream of altered splice site)
35623564STRANDmight get lost (downstream of altered splice site)
35683570STRANDmight get lost (downstream of altered splice site)
35793584STRANDmight get lost (downstream of altered splice site)
35903597STRANDmight get lost (downstream of altered splice site)
36003602TURNmight get lost (downstream of altered splice site)
36043606STRANDmight get lost (downstream of altered splice site)
36083608DISULFIDBy similarity.might get lost (downstream of altered splice site)
36083612STRANDmight get lost (downstream of altered splice site)
36173620STRANDmight get lost (downstream of altered splice site)
36253708DOMAINIg-like 37.might get lost (downstream of altered splice site)
36283630STRANDmight get lost (downstream of altered splice site)
36433651STRANDmight get lost (downstream of altered splice site)
36473647DISULFIDBy similarity.might get lost (downstream of altered splice site)
36563663STRANDmight get lost (downstream of altered splice site)
36673675STRANDmight get lost (downstream of altered splice site)
36783683STRANDmight get lost (downstream of altered splice site)
36923698STRANDmight get lost (downstream of altered splice site)
36963696DISULFIDBy similarity.might get lost (downstream of altered splice site)
37013709STRANDmight get lost (downstream of altered splice site)
37133796DOMAINIg-like 38.might get lost (downstream of altered splice site)
37163718STRANDmight get lost (downstream of altered splice site)
37233726STRANDmight get lost (downstream of altered splice site)
37313739STRANDmight get lost (downstream of altered splice site)
37353735DISULFIDBy similarity.might get lost (downstream of altered splice site)
37443751STRANDmight get lost (downstream of altered splice site)
37543757STRANDmight get lost (downstream of altered splice site)
37593763STRANDmight get lost (downstream of altered splice site)
37663773STRANDmight get lost (downstream of altered splice site)
37763778TURNmight get lost (downstream of altered splice site)
37803788STRANDmight get lost (downstream of altered splice site)
37843784DISULFIDBy similarity.might get lost (downstream of altered splice site)
37903798STRANDmight get lost (downstream of altered splice site)
38013884DOMAINIg-like 39.might get lost (downstream of altered splice site)
38123814STRANDmight get lost (downstream of altered splice site)
38193828STRANDmight get lost (downstream of altered splice site)
38233823DISULFIDBy similarity.might get lost (downstream of altered splice site)
38323839STRANDmight get lost (downstream of altered splice site)
38423845STRANDmight get lost (downstream of altered splice site)
38473851STRANDmight get lost (downstream of altered splice site)
38543861STRANDmight get lost (downstream of altered splice site)
38643866TURNmight get lost (downstream of altered splice site)
38683874STRANDmight get lost (downstream of altered splice site)
38723872DISULFIDBy similarity.might get lost (downstream of altered splice site)
38773882STRANDmight get lost (downstream of altered splice site)
38843886STRANDmight get lost (downstream of altered splice site)
38903973DOMAINIg-like 40.might get lost (downstream of altered splice site)
39113911DISULFIDBy similarity.might get lost (downstream of altered splice site)
39613961DISULFIDBy similarity.might get lost (downstream of altered splice site)
39784062DOMAINIg-like 41.might get lost (downstream of altered splice site)
40004000DISULFIDBy similarity.might get lost (downstream of altered splice site)
40504050DISULFIDBy similarity.might get lost (downstream of altered splice site)
40684160DOMAINIg-like 42.might get lost (downstream of altered splice site)
40894089DISULFIDBy similarity.might get lost (downstream of altered splice site)
41414141DISULFIDBy similarity.might get lost (downstream of altered splice site)
41554155CONFLICTT -> TG (in Ref. 3; CAC85752).might get lost (downstream of altered splice site)
41714239DOMAINIg-like 43.might get lost (downstream of altered splice site)
42484337DOMAINIg-like 44.might get lost (downstream of altered splice site)
43404427DOMAINIg-like 45.might get lost (downstream of altered splice site)
43984401COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
44304518DOMAINIg-like 46.might get lost (downstream of altered splice site)
44534453DISULFIDBy similarity.might get lost (downstream of altered splice site)
44894489CONFLICTH -> Q (in Ref. 1; CAC44768).might get lost (downstream of altered splice site)
45084508DISULFIDBy similarity.might get lost (downstream of altered splice site)
45234614DOMAINFibronectin type-III 3.might get lost (downstream of altered splice site)
46244714DOMAINIg-like 47.might get lost (downstream of altered splice site)
48464849COMPBIASPoly-Gln.might get lost (downstream of altered splice site)
48724901DOMAINIQ.might get lost (downstream of altered splice site)
48984989DOMAINIg-like 48.might get lost (downstream of altered splice site)
49194919DISULFIDBy similarity.might get lost (downstream of altered splice site)
49594959CONFLICTT -> A (in Ref. 1; CAC44768).might get lost (downstream of altered splice site)
49714971DISULFIDBy similarity.might get lost (downstream of altered splice site)
51265215DOMAINIg-like 49.might get lost (downstream of altered splice site)
51475147DISULFIDBy similarity.might get lost (downstream of altered splice site)
51995199DISULFIDBy similarity.might get lost (downstream of altered splice site)
52435243CONFLICTS -> ST (in Ref. 1; CAC85753).might get lost (downstream of altered splice site)
52605349DOMAINIg-like 50.might get lost (downstream of altered splice site)
53715467DOMAINIg-like 51.might get lost (downstream of altered splice site)
53915391CONFLICTS -> F (in Ref. 4; BAB13465).might get lost (downstream of altered splice site)
54995500CONFLICTLE -> FQ (in Ref. 1; CAC44768).might get lost (downstream of altered splice site)
56015668DOMAINSH3.might get lost (downstream of altered splice site)
56045609STRANDmight get lost (downstream of altered splice site)
56285636STRANDmight get lost (downstream of altered splice site)
56395644STRANDmight get lost (downstream of altered splice site)
56545657STRANDmight get lost (downstream of altered splice site)
56595661HELIXmight get lost (downstream of altered splice site)
56625665STRANDmight get lost (downstream of altered splice site)
56935877DOMAINDH.might get lost (downstream of altered splice site)
58956004DOMAINPH.might get lost (downstream of altered splice site)
60146097DOMAINIg-like 52.might get lost (downstream of altered splice site)
60356035DISULFIDBy similarity.might get lost (downstream of altered splice site)
60386038MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
60406040MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
60876087DISULFIDBy similarity.might get lost (downstream of altered splice site)
61086200DOMAINIg-like 53.might get lost (downstream of altered splice site)
61156115CONFLICTR -> L (in Ref. 1; CAC44768).might get lost (downstream of altered splice site)
61296129DISULFIDBy similarity.might get lost (downstream of altered splice site)
61826182DISULFIDBy similarity.might get lost (downstream of altered splice site)
63576445DOMAINIg-like 54.might get lost (downstream of altered splice site)
64686721DOMAINProtein kinase 1.might get lost (downstream of altered splice site)
64746482NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
64976497BINDINGATP (By similarity).might get lost (downstream of altered splice site)
65706570CONFLICTQ -> E (in Ref. 3; CAJ76912).might get lost (downstream of altered splice site)
65876587ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
67106711CONFLICTPS -> SG (in Ref. 3; CAJ76912).might get lost (downstream of altered splice site)
67896796COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
69697117COMPBIASPro-rich.might get lost (downstream of altered splice site)
74637552DOMAINIg-like 55.might get lost (downstream of altered splice site)
74847484DISULFIDBy similarity.might get lost (downstream of altered splice site)
75367536DISULFIDBy similarity.might get lost (downstream of altered splice site)
75577644DOMAINFibronectin type-III 4.might get lost (downstream of altered splice site)
76717671MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
76727924DOMAINProtein kinase 2.might get lost (downstream of altered splice site)
76787686NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
77017701BINDINGATP (By similarity).might get lost (downstream of altered splice site)
77917791ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 16809 / 16809
position (AA) of stopcodon in wt / mu AA sequence 5603 / 5603
position of stopcodon in wt / mu cDNA 25496 / 25496
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 8688 / 8688
chromosome 1
strand 1
last intron/exon boundary 25319
theoretical NMD boundary in CDS 16581
length of CDS 16809
coding sequence (CDS) position 5017
cDNA position
(for ins/del: last normal base / first normal base)		 13704
gDNA position
(for ins/del: last normal base / first normal base)		 98960
chromosomal position
(for ins/del: last normal base / first normal base)		 228494790
original gDNA sequence snippet CTGCAGAGCTGCTGGTACGCGGAGTGGAGCAGGAGGATGCG
altered gDNA sequence snippet CTGCAGAGCTGCTGGTACGCAGAGTGGAGCAGGAGGATGCG
original cDNA sequence snippet CTGCAGAGCTGCTGGTACGCGGAGTGGAGCAGGAGGATGCG
altered cDNA sequence snippet CTGCAGAGCTGCTGGTACGCAGAGTGGAGCAGGAGGATGCG
wildtype AA sequence MLVIRGASLK DAGEYTCEVE ASKSTASLHV EEKANCFTEE LTNLQVEEKG TAVFTCKTEH
PAATVTWRKG LLELRASGKH QPSQEGLTLR LTISALEKAD SDTYTCDIGQ AQSRAQLLVQ
GRRVHIIEDL EDVDVQEGSS ATFRCRISPA NYEPVHWFLD KTPLHANELN EIDAQPGGYH
VLTLRQLALK DSGTIYFEAG DQRASAALRV TEKPSVFSRE LTDATITEGE DLTLVCETST
CDIPVCWTKD GKTLRGSARC QLSHEGHRAQ LLITGATLQD SGRYKCEAGG ACSSSIVRVH
ARPVRFQEAL KDLEVLEGGA ATLRCVLSSV AAPVKWCYGN NVLRPGDKYS LRQEGAMLEL
VVRNLRPQDS GRYSCSFGDQ TTSATLTVTA LPAQFIGKLR NKEATEGATA TLRCELSKAA
PVEWRKGSET LRDGDRYCLR QDGAMCELQI RGLAMVDAAE YSCVCGEERT SASLTIRPMP
AHFIGRLRHQ ESIEGATATL RCELSKAAPV EWRKGRESLR DGDRHSLRQD GAVCELQICG
LAVADAGEYS CVCGEERTSA TLTVKALPAK FTEGLRNEEA VEGATAMLWC ELSKVAPVEW
RKGPENLRDG DRYILRQEGT RCELQICGLA MADAGEYLCV CGQERTSATL TIRALPARFI
EDVKNQEARE GATAVLQCEL NSAAPVEWRK GSETLRDGDR YSLRQDGTKC ELQIRGLAMA
DTGEYSCVCG QERTSAMLTV RALPIKFTEG LRNEEATEGA TAVLRCELSK MAPVEWWKGH
ETLRDGDRHS LRQDGARCEL QIRGLVAEDA GEYLCMCGKE RTSAMLTVRA MPSKFIEGLR
NEEATEGDTA TLWCELSKAA PVEWRKGHET LRDGDRHSLR QDGSRCELQI RGLAVVDAGE
YSCVCGQERT SATLTVRALP ARFIEDVKNQ EAREGATAVL QCELSKAAPV EWRKGSETLR
GGDRYSLRQD GTRCELQIHG LSVADTGEYS CVCGQERTSA TLTVRALPAR FTQDLKTKEA
SEGATATLQC ELSKVAPVEW KKGPETLRDG GRYSLKQDGT RCELQIHDLS VADAGEYSCM
CGQERTSATL TVRALPARFT EGLRNEEAME GATATLQCEL SKAAPVEWRK GLEALRDGDK
YSLRQDGAVC ELQIHGLAMA DNGVYSCVCG QERTSATLTV RALPARFIED MRNQKATEGA
TVTLQCKLRK AAPVEWRKGP NTLKDGDRYS LKQDGTSCEL QIRGLVIADA GEYSCICEQE
RTSATLTVRA LPARFIEDVR NHEATEGATA VLQCELSKAA PVEWRKGSET LRDGDRYSLR
QDGTRCELQI RGLAVEDTGE YLCVCGQERT SATLTVRALP ARFIDNMTNQ EAREGATATL
HCELSKVAPV EWRKGPETLR DGDRHSLRQD GTRCELQIRG LSVADAGEYS CVCGQERTSA
TLTIREATEG ATAMLQCELS KVAPVEWRKG PETLRDGDRY NLRQDGTRCE LQIHGLSVAD
TGEYSCVCGQ EKTSATLTVK APQPVFREPL QSLQAEEGST ATLQCELSEP TATVVWSKGG
LQLQANGRRE PRLQGCTAEL VLQDLQREDT GEYTCTCGSQ ATSATLTVTA APVRFLRELQ
HQEVDEGGTA HLCCELSRAG ASVEWRKGSL QLFPCAKYQM VQDGAAAELL VRGVEQEDAG
DYTCDTGHTQ SMASLSVRVP RPKFKTRLQS LEQETGDIAR LCCQLSDAES GAVVQWLKEG
VELHAGPKYE MRSQGATREL LIHQLEAKDT GEYACVTGGQ KTAASLRVTE PEVTIVRGLV
DAEVTADEDV EFSCEVSRAG ATGVQWCLQG LPLQSNEVTE VAVRDGRIHT LRLKGVTPED
AGTVSFHLGN HASSAQLTVR APEVTILEPL QDVQLSEGQD ASFQCRLSRA SGQEARWALG
GVPLQANEMN DITVEQGTLH LLTLHKVTLE DAGTVSFHVG TCSSEAQLKV TAKNTVVRGL
ENVEALEGGE ALFECQLSQP EVAAHTWLLD DEPVHTSENA EVVFFENGLR HLLLLKNLRP
QDSCRVTFLA GDMVTSAFLT VRGWRLEILE PLKNAAVRAG AQACFTCTLS EAVPVGEASW
YINGAAVQPD DSDWTVTADG SHHALLLRSA QPHHAGEVTF ACRDAVASAR LTVLGLPDPP
EDAEVVARSS HTVTLSWAAP MSDGGGGLCG YRVEVKEGAT GQWRLCHELV PGPECVVDGL
APGETYRFRV AAVGPVGAGE PVHLPQTVRL AEPPKPVPPQ PSAPESRQVA AGEDVSLELE
VVAEAGEVIW HKGMERIQPG GRFEVVSQGR QQMLVIKGFT AEDQGEYHCG LAQGSICPAA
ATFQVALSPA SVDEAPQPSL PPEAAQEGDL HLLWEALARK RRMSREPTLD SISELPEEDG
RSQRLPQEAE EVAPDLSEGY STADELARTG DADLSHTSSD DESRAGTPSL VTYLKKAGRP
GTSPLASKVG APAAPSVKPQ QQQEPLAAVR PPLGDLSTKD LGDPSMDKAA VKIQAAFKGY
KVRKEMKQQE GPMFSHTFGD TEAQVGDALR LECVVASKAD VRARWLKDGV ELTDGRHHHI
DQLGDGTCSL LITGLDRADA GCYTCQVSNK FGQVTHSACV VVSGSESEAE SSSGGELDDA
FRRAARRLHR LFRTKSPAEV SDEELFLSAD EGPAEPEEPA DWQTYREDEH FICIRFEALT
EARQAVTRFQ EMFATLGIGV EIKLVEQGPR RVEMCISKET PAPVVPPEPL PSLLTSDAAP
VFLTELQNQE VQDGYPVSFD CVVTGQPMPS VRWFKDGKLL EEDDHYMINE DQQGGHQLII
TAVVPADMGV YRCLAENSMG VSSTKAELRV DLTSTDYDTA ADATESSSYF SAQGYLSSRE
QEGTESTTDE GQLPQVVEEL RDLQVAPGTR LAKFQLKVKG YPAPRLYWFK DGQPLTASAH
IRMTDKKILH TLEIISVTRE DSGQYAAYIS NAMGAAYSSA RLLVRGPDEP EEKPASDVHE
QLVPPRMLER FTPKKVKKGS SITFSVKVEG RPVPTVHWLR EEAERGVLWI GPDTPGYTVA
SSAQQHSLVL LDVGRQHQGT YTCIASNAAG QALCSASLHV SGLPKVEEQE KVKEALISTF
LQGTTQAISA QGLETASFAD LGGQRKEEPL AAKEALGHLS LAEVGTEEFL QKLTSQITEM
VSAKITQAKL QVPGGDSDED SKTPSASPRH GRSRPSSSIQ ESSSESEDGD ARGEIFDIYV
VTADYLPLGA EQDAITLREG QYVEVLDAAH PLRWLVRTKP TKSSPSRQGW VSPAYLDRRL
KLSPEWGAAE APEFPGEAVS EDEYKARLSS VIQELLSSEQ AFVEELQFLQ SHHLQHLERC
PHVPIAVAGQ KAVIFRNVRD IGRFHSSFLQ ELQQCDTDDD VAMCFIKNQA AFEQYLEFLV
GRVQAESVVV STAIQEFYKK YAEEALLAGD PSQPPPPPLQ HYLEQPVERV QRYQALLKEL
IRNKARNRQN CALLEQAYAV VSALPQRAEN KLHVSLMENY PGTLQALGEP IRQGHFIVWE
GAPGARMPWK GHNRHVFLFR NHLVICKPRR DSRTDTVSYV FRNMMKLSSI DLNDQVEGDD
RAFEVWQERE DSVRKYLLQA RTAIIKSSWV KEICGIQQRL ALPVWRPPDF EEELADCTAE
LGETVKLACR VTGTPKPVIS WYKDGKAVQV DPHHILIEDP DGSCALILDS LTGVDSGQYM
CFAASAAGNC STLGKILVQV PPRFVNKVRA SPFVEGEDAQ FTCTIEGAPY PQIRWYKDGA
LLTTGNKFQT LSEPRSGLLV LVIRAASKED LGLYECELVN RLGSARASAE LRIQSPMLQA
QEQCHREQLV AAVEDTTLER ADQEVTSVLK RLLGPKAPGP STGDLTGPGP CPRGAPALQE
TGSQPPVTGT SEAPAVPPRV PQPLLHEGPE QEPEAIARAQ EWTVPIRMEG AAWPGAGTGE
LLWDVHSHVV RETTQRTYTY QAIDTHTARP PSMQVTIEDV QAQTGGTAQF EAIIEGDPQP
SVTWYKDSVQ LVDSTRLSQQ QEGTTYSLVL RHVASKDAGV YTCLAQNTGG QVLCKAELLV
LGGDNEPDSE KQSHRRKLHS FYEVKEEIGR GVFGFVKRVQ HKGNKILCAA KFIPLRSRTR
AQAYRERDIL AALSHPLVTG LLDQFETRKT LILILELCSS EELLDRLYRK GVVTEAEVKV
YIQQLVEGLH YLHSHGVLHL DIKPSNILMV HPAREDIKIC DFGFAQNITP AELQFSQYGS
PEFVSPEIIQ QNPVSEASDI WAMGVISYLS LTCSSPFAGE SDRATLLNVL EGRVSWSSPM
AAHLSEDAKD FIKATLQRAP QARPSAAQCL SHPWFLKSMP AEEAHFINTK QLKFLLARSR
WQRSLMSYKS ILVMRSIPEL LRGPPDSPSL GVARHLCRDT GGSSSSSSSS DNELAPFARA
KSLPPSPVTH SPLLHPRGFL RPSASLPEEA EASERSTEAP APPASPEGAG PPAAQGCVPR
HSVIRSLFYH QAGESPEHGA LAPGSRRHPA RRRHLLKGGY IAGALPGLRE PLMEHRVLEE
EAAREEQATL LAKAPSFETA LRLPASGTHL APGHSHSLEH DSPSTPRPSS EACGEAQRLP
SAPSGGAPIR DMGHPQGSKQ LPSTGGHPGT AQPERPSPDS PWGQPAPFCH PKQGSAPQEG
CSPHPAVAPC PPGSFPPGSC KEAPLVPSSP FLGQPQAPPA PAKASPPLDS KMGPGDISLP
GRPKPGPCSS PGSASQASSS QVSSLRVGSS QVGTEPGPSL DAEGWTQEAE DLSDSTPTLQ
RPQEQATMRK FSLGGRGGYA GVAGYGTFAF GGDAGGMLGQ GPMWARIAWA VSQSEEEEQE
EARAESQSEE QQEARAESPL PQVSARPVPE VGRAPTRSSP EPTPWEDIGQ VSLVQIRDLS
GDAEAADTIS LDISEVDPAY LNLSDLYDIK YLPFEFMIFR KVPKSAQPEP PSPMAEEELA
EFPEPTWPWP GELGPHAGLE ITEESEDVDA LLAEAAVGRK RKWSSPSRSL FHFPGRHLPL
DEPAELGLRE RVKASVEHIS RILKGRPEGL EKEGPPRKKP GLASFRLSGL KSWDRAPTFL
RELSDETVVL GQSVTLACQV SAQPAAQATW SKDGAPLESS SRVLISATLK NFQLLTILVV
VAEDLGVYTC SVSNALGTVT TTGVLRKAER PSSSPCPDIG EVYADGVLLV WKPVESYGPV
TYIVQCSLEG GSWTTLASDI FDCCYLTSKL SRGGTYTFRT ACVSKAGMGP YSSPSEQVLL
GGPSHLASEE ESQGRSAQPL PSTKTFAFQT QIQRGRFSVV RQCWEKASGR ALAAKIIPYH
PKDKTAVLRE YEALKGLRHP HLAQLHAAYL SPRHLVLILE LCSGPELLPC LAERASYSES
EVKDYLWQML SATQYLHNQH ILHLDLRSEN MIITEYNLLK VVDLGNAQSL SQEKVLPSDK
FKDYLETMAP ELLEGQGAVP QTDIWAIGVT AFIMLSAEYP VSSEGARDLQ RGLRKGLVRL
SRCYAGLSGG AVAFLRSTLC AQPWGRPCAS SCLQCPWLTE EGPACSRPAP VTFPTARLRV
FVRNREKRRA LLYKRHNLAQ VR*
mutated AA sequence MLVIRGASLK DAGEYTCEVE ASKSTASLHV EEKANCFTEE LTNLQVEEKG TAVFTCKTEH
PAATVTWRKG LLELRASGKH QPSQEGLTLR LTISALEKAD SDTYTCDIGQ AQSRAQLLVQ
GRRVHIIEDL EDVDVQEGSS ATFRCRISPA NYEPVHWFLD KTPLHANELN EIDAQPGGYH
VLTLRQLALK DSGTIYFEAG DQRASAALRV TEKPSVFSRE LTDATITEGE DLTLVCETST
CDIPVCWTKD GKTLRGSARC QLSHEGHRAQ LLITGATLQD SGRYKCEAGG ACSSSIVRVH
ARPVRFQEAL KDLEVLEGGA ATLRCVLSSV AAPVKWCYGN NVLRPGDKYS LRQEGAMLEL
VVRNLRPQDS GRYSCSFGDQ TTSATLTVTA LPAQFIGKLR NKEATEGATA TLRCELSKAA
PVEWRKGSET LRDGDRYCLR QDGAMCELQI RGLAMVDAAE YSCVCGEERT SASLTIRPMP
AHFIGRLRHQ ESIEGATATL RCELSKAAPV EWRKGRESLR DGDRHSLRQD GAVCELQICG
LAVADAGEYS CVCGEERTSA TLTVKALPAK FTEGLRNEEA VEGATAMLWC ELSKVAPVEW
RKGPENLRDG DRYILRQEGT RCELQICGLA MADAGEYLCV CGQERTSATL TIRALPARFI
EDVKNQEARE GATAVLQCEL NSAAPVEWRK GSETLRDGDR YSLRQDGTKC ELQIRGLAMA
DTGEYSCVCG QERTSAMLTV RALPIKFTEG LRNEEATEGA TAVLRCELSK MAPVEWWKGH
ETLRDGDRHS LRQDGARCEL QIRGLVAEDA GEYLCMCGKE RTSAMLTVRA MPSKFIEGLR
NEEATEGDTA TLWCELSKAA PVEWRKGHET LRDGDRHSLR QDGSRCELQI RGLAVVDAGE
YSCVCGQERT SATLTVRALP ARFIEDVKNQ EAREGATAVL QCELSKAAPV EWRKGSETLR
GGDRYSLRQD GTRCELQIHG LSVADTGEYS CVCGQERTSA TLTVRALPAR FTQDLKTKEA
SEGATATLQC ELSKVAPVEW KKGPETLRDG GRYSLKQDGT RCELQIHDLS VADAGEYSCM
CGQERTSATL TVRALPARFT EGLRNEEAME GATATLQCEL SKAAPVEWRK GLEALRDGDK
YSLRQDGAVC ELQIHGLAMA DNGVYSCVCG QERTSATLTV RALPARFIED MRNQKATEGA
TVTLQCKLRK AAPVEWRKGP NTLKDGDRYS LKQDGTSCEL QIRGLVIADA GEYSCICEQE
RTSATLTVRA LPARFIEDVR NHEATEGATA VLQCELSKAA PVEWRKGSET LRDGDRYSLR
QDGTRCELQI RGLAVEDTGE YLCVCGQERT SATLTVRALP ARFIDNMTNQ EAREGATATL
HCELSKVAPV EWRKGPETLR DGDRHSLRQD GTRCELQIRG LSVADAGEYS CVCGQERTSA
TLTIREATEG ATAMLQCELS KVAPVEWRKG PETLRDGDRY NLRQDGTRCE LQIHGLSVAD
TGEYSCVCGQ EKTSATLTVK APQPVFREPL QSLQAEEGST ATLQCELSEP TATVVWSKGG
LQLQANGRRE PRLQGCTAEL VLQDLQREDT GEYTCTCGSQ ATSATLTVTA APVRFLRELQ
HQEVDEGGTA HLCCELSRAG ASVEWRKGSL QLFPCAKYQM VQDGAAAELL VRRVEQEDAG
DYTCDTGHTQ SMASLSVRVP RPKFKTRLQS LEQETGDIAR LCCQLSDAES GAVVQWLKEG
VELHAGPKYE MRSQGATREL LIHQLEAKDT GEYACVTGGQ KTAASLRVTE PEVTIVRGLV
DAEVTADEDV EFSCEVSRAG ATGVQWCLQG LPLQSNEVTE VAVRDGRIHT LRLKGVTPED
AGTVSFHLGN HASSAQLTVR APEVTILEPL QDVQLSEGQD ASFQCRLSRA SGQEARWALG
GVPLQANEMN DITVEQGTLH LLTLHKVTLE DAGTVSFHVG TCSSEAQLKV TAKNTVVRGL
ENVEALEGGE ALFECQLSQP EVAAHTWLLD DEPVHTSENA EVVFFENGLR HLLLLKNLRP
QDSCRVTFLA GDMVTSAFLT VRGWRLEILE PLKNAAVRAG AQACFTCTLS EAVPVGEASW
YINGAAVQPD DSDWTVTADG SHHALLLRSA QPHHAGEVTF ACRDAVASAR LTVLGLPDPP
EDAEVVARSS HTVTLSWAAP MSDGGGGLCG YRVEVKEGAT GQWRLCHELV PGPECVVDGL
APGETYRFRV AAVGPVGAGE PVHLPQTVRL AEPPKPVPPQ PSAPESRQVA AGEDVSLELE
VVAEAGEVIW HKGMERIQPG GRFEVVSQGR QQMLVIKGFT AEDQGEYHCG LAQGSICPAA
ATFQVALSPA SVDEAPQPSL PPEAAQEGDL HLLWEALARK RRMSREPTLD SISELPEEDG
RSQRLPQEAE EVAPDLSEGY STADELARTG DADLSHTSSD DESRAGTPSL VTYLKKAGRP
GTSPLASKVG APAAPSVKPQ QQQEPLAAVR PPLGDLSTKD LGDPSMDKAA VKIQAAFKGY
KVRKEMKQQE GPMFSHTFGD TEAQVGDALR LECVVASKAD VRARWLKDGV ELTDGRHHHI
DQLGDGTCSL LITGLDRADA GCYTCQVSNK FGQVTHSACV VVSGSESEAE SSSGGELDDA
FRRAARRLHR LFRTKSPAEV SDEELFLSAD EGPAEPEEPA DWQTYREDEH FICIRFEALT
EARQAVTRFQ EMFATLGIGV EIKLVEQGPR RVEMCISKET PAPVVPPEPL PSLLTSDAAP
VFLTELQNQE VQDGYPVSFD CVVTGQPMPS VRWFKDGKLL EEDDHYMINE DQQGGHQLII
TAVVPADMGV YRCLAENSMG VSSTKAELRV DLTSTDYDTA ADATESSSYF SAQGYLSSRE
QEGTESTTDE GQLPQVVEEL RDLQVAPGTR LAKFQLKVKG YPAPRLYWFK DGQPLTASAH
IRMTDKKILH TLEIISVTRE DSGQYAAYIS NAMGAAYSSA RLLVRGPDEP EEKPASDVHE
QLVPPRMLER FTPKKVKKGS SITFSVKVEG RPVPTVHWLR EEAERGVLWI GPDTPGYTVA
SSAQQHSLVL LDVGRQHQGT YTCIASNAAG QALCSASLHV SGLPKVEEQE KVKEALISTF
LQGTTQAISA QGLETASFAD LGGQRKEEPL AAKEALGHLS LAEVGTEEFL QKLTSQITEM
VSAKITQAKL QVPGGDSDED SKTPSASPRH GRSRPSSSIQ ESSSESEDGD ARGEIFDIYV
VTADYLPLGA EQDAITLREG QYVEVLDAAH PLRWLVRTKP TKSSPSRQGW VSPAYLDRRL
KLSPEWGAAE APEFPGEAVS EDEYKARLSS VIQELLSSEQ AFVEELQFLQ SHHLQHLERC
PHVPIAVAGQ KAVIFRNVRD IGRFHSSFLQ ELQQCDTDDD VAMCFIKNQA AFEQYLEFLV
GRVQAESVVV STAIQEFYKK YAEEALLAGD PSQPPPPPLQ HYLEQPVERV QRYQALLKEL
IRNKARNRQN CALLEQAYAV VSALPQRAEN KLHVSLMENY PGTLQALGEP IRQGHFIVWE
GAPGARMPWK GHNRHVFLFR NHLVICKPRR DSRTDTVSYV FRNMMKLSSI DLNDQVEGDD
RAFEVWQERE DSVRKYLLQA RTAIIKSSWV KEICGIQQRL ALPVWRPPDF EEELADCTAE
LGETVKLACR VTGTPKPVIS WYKDGKAVQV DPHHILIEDP DGSCALILDS LTGVDSGQYM
CFAASAAGNC STLGKILVQV PPRFVNKVRA SPFVEGEDAQ FTCTIEGAPY PQIRWYKDGA
LLTTGNKFQT LSEPRSGLLV LVIRAASKED LGLYECELVN RLGSARASAE LRIQSPMLQA
QEQCHREQLV AAVEDTTLER ADQEVTSVLK RLLGPKAPGP STGDLTGPGP CPRGAPALQE
TGSQPPVTGT SEAPAVPPRV PQPLLHEGPE QEPEAIARAQ EWTVPIRMEG AAWPGAGTGE
LLWDVHSHVV RETTQRTYTY QAIDTHTARP PSMQVTIEDV QAQTGGTAQF EAIIEGDPQP
SVTWYKDSVQ LVDSTRLSQQ QEGTTYSLVL RHVASKDAGV YTCLAQNTGG QVLCKAELLV
LGGDNEPDSE KQSHRRKLHS FYEVKEEIGR GVFGFVKRVQ HKGNKILCAA KFIPLRSRTR
AQAYRERDIL AALSHPLVTG LLDQFETRKT LILILELCSS EELLDRLYRK GVVTEAEVKV
YIQQLVEGLH YLHSHGVLHL DIKPSNILMV HPAREDIKIC DFGFAQNITP AELQFSQYGS
PEFVSPEIIQ QNPVSEASDI WAMGVISYLS LTCSSPFAGE SDRATLLNVL EGRVSWSSPM
AAHLSEDAKD FIKATLQRAP QARPSAAQCL SHPWFLKSMP AEEAHFINTK QLKFLLARSR
WQRSLMSYKS ILVMRSIPEL LRGPPDSPSL GVARHLCRDT GGSSSSSSSS DNELAPFARA
KSLPPSPVTH SPLLHPRGFL RPSASLPEEA EASERSTEAP APPASPEGAG PPAAQGCVPR
HSVIRSLFYH QAGESPEHGA LAPGSRRHPA RRRHLLKGGY IAGALPGLRE PLMEHRVLEE
EAAREEQATL LAKAPSFETA LRLPASGTHL APGHSHSLEH DSPSTPRPSS EACGEAQRLP
SAPSGGAPIR DMGHPQGSKQ LPSTGGHPGT AQPERPSPDS PWGQPAPFCH PKQGSAPQEG
CSPHPAVAPC PPGSFPPGSC KEAPLVPSSP FLGQPQAPPA PAKASPPLDS KMGPGDISLP
GRPKPGPCSS PGSASQASSS QVSSLRVGSS QVGTEPGPSL DAEGWTQEAE DLSDSTPTLQ
RPQEQATMRK FSLGGRGGYA GVAGYGTFAF GGDAGGMLGQ GPMWARIAWA VSQSEEEEQE
EARAESQSEE QQEARAESPL PQVSARPVPE VGRAPTRSSP EPTPWEDIGQ VSLVQIRDLS
GDAEAADTIS LDISEVDPAY LNLSDLYDIK YLPFEFMIFR KVPKSAQPEP PSPMAEEELA
EFPEPTWPWP GELGPHAGLE ITEESEDVDA LLAEAAVGRK RKWSSPSRSL FHFPGRHLPL
DEPAELGLRE RVKASVEHIS RILKGRPEGL EKEGPPRKKP GLASFRLSGL KSWDRAPTFL
RELSDETVVL GQSVTLACQV SAQPAAQATW SKDGAPLESS SRVLISATLK NFQLLTILVV
VAEDLGVYTC SVSNALGTVT TTGVLRKAER PSSSPCPDIG EVYADGVLLV WKPVESYGPV
TYIVQCSLEG GSWTTLASDI FDCCYLTSKL SRGGTYTFRT ACVSKAGMGP YSSPSEQVLL
GGPSHLASEE ESQGRSAQPL PSTKTFAFQT QIQRGRFSVV RQCWEKASGR ALAAKIIPYH
PKDKTAVLRE YEALKGLRHP HLAQLHAAYL SPRHLVLILE LCSGPELLPC LAERASYSES
EVKDYLWQML SATQYLHNQH ILHLDLRSEN MIITEYNLLK VVDLGNAQSL SQEKVLPSDK
FKDYLETMAP ELLEGQGAVP QTDIWAIGVT AFIMLSAEYP VSSEGARDLQ RGLRKGLVRL
SRCYAGLSGG AVAFLRSTLC AQPWGRPCAS SCLQCPWLTE EGPACSRPAP VTFPTARLRV
FVRNREKRRA LLYKRHNLAQ VR*
speed 1.03 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project