Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999989761 (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) chr11:1246941A>GN/A show variant in all transcripts   IGV
HGNC symbol MUC5B
Ensembl transcript ID ENST00000529681
Genbank transcript ID NM_002458
UniProt peptide Q9HC84
alteration type single base exchange
alteration region CDS
DNA changes c.101A>G
cDNA.159A>G
g.2646A>G
AA changes E34G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 34
frameshift no
known variant Reference ID: rs2672785
databasehomozygous (G/G)heterozygousallele carriers
1000G29710461343
ExAC36282011223740
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5790
-0.2310
(flanking)-1.830
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained26450.63mu: GCTGGGGGAATGCAG TGGG|ggaa
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      34AETQGPVEPSWENAGHTMDGGAPT
mutated  not conserved    34AETQGPVEPSWGNAGHTMDGGAP
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000066108  34AESQGQAELSSEHLELTGDSQRVYSDS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000089847  n/a
Dmelanogaster  no alignment  FBgn0029167  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
76277DOMAINVWFD 1.might get lost (downstream of altered splice site)
95100CONFLICTFPGLCN -> LPCLCK (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
9999DISULFIDBy similarity.might get lost (downstream of altered splice site)
104104CONFLICTS -> C (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
107107DISULFIDBy similarity.might get lost (downstream of altered splice site)
142142CONFLICTE -> K (in Ref. 1; AAG33673).might get lost (downstream of altered splice site)
145145CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
201201CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225225CONFLICTR -> S (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
254254CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
329385DOMAINTIL 1.might get lost (downstream of altered splice site)
330331CONFLICTPL -> T (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
337337CONFLICTE -> N (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
356356CONFLICTE -> K (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
362362CONFLICTG -> R (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
368368CONFLICTG -> GS (in Ref. 1; AAG33673).might get lost (downstream of altered splice site)
373373CONFLICTD -> N (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
392393CONFLICTRT -> TR (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
401401CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
424638DOMAINVWFD 2.might get lost (downstream of altered splice site)
447447DISULFIDBy similarity.might get lost (downstream of altered splice site)
455455DISULFIDBy similarity.might get lost (downstream of altered splice site)
467468CONFLICTRK -> GR (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
511511CONFLICTL -> P (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
515515CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
584586CONFLICTGAA -> AH (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
600600CONFLICTA -> S (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
627628CONFLICTDP -> RS (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
632632CONFLICTF -> L (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
675675CONFLICTA -> P (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
695752DOMAINTIL 2.might get lost (downstream of altered splice site)
700700CONFLICTR -> P (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
751751CONFLICTE -> K (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
805805CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
805855DOMAINTIL 3.might get lost (downstream of altered splice site)
811811CONFLICTP -> L (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
816817CONFLICTLR -> DG (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
855927DOMAINVWFC 1.might get lost (downstream of altered splice site)
859860CONFLICTHN -> NK (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
866866CONFLICTP -> L (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
872872CONFLICTV -> F (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
883883CONFLICTR -> T (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
889889CONFLICTR -> G (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
8941099DOMAINVWFD 3.might get lost (downstream of altered splice site)
929929CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10201020CONFLICTG -> A (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
10821082CONFLICTQ -> E (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
11091261COMPBIASCys-rich.might get lost (downstream of altered splice site)
11441144CONFLICTS -> C (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
11951195CONFLICTG -> R (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
12071207CONFLICTMissing (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
12761276CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12911291CONFLICTS -> T (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
12921292CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13171317CONFLICTMissing (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
13331432REPEATCys-rich subdomain 1.might get lost (downstream of altered splice site)
13334228REGION7 X Cys-rich subdomain repeats.might get lost (downstream of altered splice site)
13401340CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
14561502COMPBIASThr-rich.might get lost (downstream of altered splice site)
15031604REPEATCys-rich subdomain 2.might get lost (downstream of altered splice site)
15091509CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
15561556CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
16084932COMPBIASThr-rich.might get lost (downstream of altered splice site)
16751677CONFLICTTTP -> RQS (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
17741774CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17841885REPEATCys-rich subdomain 3.might get lost (downstream of altered splice site)
17901790MUTAGENW->A: Poorly secreted.might get lost (downstream of altered splice site)
17901790CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
18902199REGION11 X approximate tandem repeats, Ser/Thr- rich.might get lost (downstream of altered splice site)
19261927CONFLICTPT -> AS (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
19301931CONFLICTLR -> QA (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
19341940CONFLICTPPPKVLT -> GTPHVS (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
19561956CONFLICTS -> F (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
19801982CONFLICTVTP -> FTA (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
20022002CONFLICTT -> M (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
20172017CONFLICTA -> V (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
20522052CONFLICTP -> L (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
20692073CONFLICTTALTP -> RARTL (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
21022102CONFLICTA -> P (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
21742174CONFLICTN -> S (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
22032203CONFLICTP -> S (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
22112211CONFLICTR -> C (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
22332233CONFLICTV -> G (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
23002300CONFLICTS -> Q (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
23132414REPEATCys-rich subdomain 4.might get lost (downstream of altered splice site)
23202320CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
23332333CONFLICTP -> S (in Ref. 6; AAB61398).might get lost (downstream of altered splice site)
24192756REGION11 X approximate tandem repeats, Ser/Thr- rich.might get lost (downstream of altered splice site)
24562497CONFLICTSSTPGTTWILTEPSTTATVTVPTGSTATASSTQATAGTPHV S -> TSTLRTAPPPKVLT (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
24612462CONFLICTTT -> DD (in Ref. 6; AAB61398).might get lost (downstream of altered splice site)
24683695CONFLICTMissing (in Ref. 6; AAB61398).might get lost (downstream of altered splice site)
25132513CONFLICTF -> S (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
25372539CONFLICTFTA -> VTP (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
25742574CONFLICTV -> A (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
25822582CONFLICTT -> A (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
26092609CONFLICTL -> P (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
26282630CONFLICTRTL -> LTP (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
26592659CONFLICTP -> A (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
27132713CONFLICTT -> R (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
27492749CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28342834CONFLICTR -> T (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
28542886REPEATHAT 1.might get lost (downstream of altered splice site)
28712971REPEATCys-rich subdomain 5.might get lost (downstream of altered splice site)
28772877CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
29763456REGION17 X approximate tandem repeats, Ser/Thr- rich.might get lost (downstream of altered splice site)
30283028CONFLICTT -> Q (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
30803086CONFLICTLPEQTTT -> SQNRPPH (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
31483152CONFLICTTGPTA -> LPHG (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
32893289CONFLICTMissing (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
34493449CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
34903490CONFLICTV -> G (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
35003500CONFLICTS -> G (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
35043504CONFLICTH -> P (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
35543586REPEATHAT 2.might get lost (downstream of altered splice site)
35713671REPEATCys-rich subdomain 6.might get lost (downstream of altered splice site)
35773577CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
36764013REGION11 X approximate tandem repeats, Ser/Thr- rich.might get lost (downstream of altered splice site)
37163747CONFLICTPGTTWILTEPSTTATVTVPTGSTATASSTQAT -> QGPP (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
38113811CONFLICTQ -> P (in Ref. 6; AAB61398).might get lost (downstream of altered splice site)
38313831CONFLICTA -> V (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
38453845CONFLICTR -> G (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
39093909CONFLICTV -> I (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
39243925CONFLICTTT -> QP (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
39753975CONFLICTV -> E (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
40064006CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
40604061CONFLICTQH -> TT (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
41114143REPEATHAT 3.might get lost (downstream of altered splice site)
41144114CONFLICTS -> Q (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
41284228REPEATCys-rich subdomain 7.might get lost (downstream of altered splice site)
41344134CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
41774177CONFLICTQ -> T (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
42334879REGION23 X approximate tandem repeats, Ser/Thr- rich.might get lost (downstream of altered splice site)
43134313CONFLICTS -> T (in Ref. 4; CAA52910).might get lost (downstream of altered splice site)
43734373CONFLICTMissing (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
44614463CONFLICTVPT -> APP (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
45674567CONFLICTA -> T (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
47804780CONFLICTT -> P (in Ref. 7; AAC51344).might get lost (downstream of altered splice site)
48044804CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
49604960CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
50175017CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
50245024CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
50465046CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
50745305DOMAINVWFD 4.might get lost (downstream of altered splice site)
50965096CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
51115111CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
51345134CONFLICTR -> A (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
51645164CONFLICTQ -> P (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
51875187CONFLICTR -> A (in Ref. 7; AAC51344 and 8; AAB65151).might get lost (downstream of altered splice site)
52155215CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
52895289CONFLICTP -> L (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
53045306CONFLICTNLV -> TLL (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
53335333CONFLICTA -> R (in Ref. 7; AAC51344).might get lost (downstream of altered splice site)
53975397CONFLICTD -> N (in Ref. 7; AAC51343/AAC51344).might get lost (downstream of altered splice site)
54125484DOMAINVWFC 2.might get lost (downstream of altered splice site)
54745474CONFLICTE -> R (in Ref. 9; CAA70926).might get lost (downstream of altered splice site)
54755475CONFLICTN -> T (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
54865486CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
55215587DOMAINVWFC 3.might get lost (downstream of altered splice site)
55265526CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
55655565CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
55665566CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
56025602CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
56125612CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
56205620CONFLICTA -> S (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
56325632CONFLICTA -> D (in Ref. 7; AAC51343).might get lost (downstream of altered splice site)
56535653DISULFIDBy similarity.might get lost (downstream of altered splice site)
56535742DOMAINCTCK.might get lost (downstream of altered splice site)
56605660CONFLICTV -> C (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
56635663CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
56725672DISULFIDBy similarity.might get lost (downstream of altered splice site)
56775677CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
56815681DISULFIDBy similarity.might get lost (downstream of altered splice site)
56855685DISULFIDBy similarity.might get lost (downstream of altered splice site)
57055705DISULFIDBy similarity.might get lost (downstream of altered splice site)
57195719DISULFIDBy similarity.might get lost (downstream of altered splice site)
57215721CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
57355735DISULFIDBy similarity.might get lost (downstream of altered splice site)
57375737DISULFIDBy similarity.might get lost (downstream of altered splice site)
57415741DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 17289 / 17289
position (AA) of stopcodon in wt / mu AA sequence 5763 / 5763
position of stopcodon in wt / mu cDNA 17347 / 17347
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 59 / 59
chromosome 11
strand 1
last intron/exon boundary 17128
theoretical NMD boundary in CDS 17019
length of CDS 17289
coding sequence (CDS) position 101
cDNA position
(for ins/del: last normal base / first normal base)		 159
gDNA position
(for ins/del: last normal base / first normal base)		 2646
chromosomal position
(for ins/del: last normal base / first normal base)		 1246941
original gDNA sequence snippet CCCTGTGGAGCCGAGCTGGGAGAATGCAGGGCACACCATGG
altered gDNA sequence snippet CCCTGTGGAGCCGAGCTGGGGGAATGCAGGGCACACCATGG
original cDNA sequence snippet CCCTGTGGAGCCGAGCTGGGAGAATGCAGGGCACACCATGG
altered cDNA sequence snippet CCCTGTGGAGCCGAGCTGGGGGAATGCAGGGCACACCATGG
wildtype AA sequence MGAPSACRTL VLALAAMLVV PQAETQGPVE PSWENAGHTM DGGAPTSSPT RRVSFVPPVT
VFPSLSPLNP AHNGRVCSTW GDFHYKTFDG DVFRFPGLCN YVFSEHCRAA YEDFNVQLRR
GLVGSRPVVT RVVIKAQGLV LEASNGSVLI NGQREELPYS RTGLLVEQSG DYIKVSIRLV
LTFLWNGEDS ALLELDPKYA NQTCGLCGDF NGLPAFNEFY AHNARLTPLQ FGNLQKLDGP
TEQCPDPLPL PAGNCTDEEG ICHRTLLGPA FAECHALVDS TAYLAACAQD LCRCPTCPCA
TFVEYSRQCA HAGGQPRNWR CPELCPRTCP LNMQHQECGS PCTDTCSNPQ RAQLCEDHCV
DGCFCPPGTV LDDITHSGCL PLGQCPCTHG GRTYSPGTSF NTTCSSCTCS GGLWQCQDLP
CPGTCSVQGG AHISTYDEKL YDLHGDCSYV LSKKCADSSF TVLAELRKCG LTDNENCLKA
VTLSLDGGDT AIRVQADGGV FLNSIYTQLP LSAANITLFT PSSFFIVVQT GLGLQLLVQL
VPLMQVFVRL DPAHQGQMCG LCGNFNQNQA DDFTALSGVV EATGAAFANT WKAQAACANA
RNSFEDPCSL SVENENYARH WCSRLTDPNS AFSRCHSIIN PKPFHSNCMF DTCNCERSED
CLCAALSSYV HACAAKGVQL SDWRDGVCTK YMQNCPKSQR YAYVVDACQP TCRGLSEADV
TCSVSFVPVD GCTCPAGTFL NDAGACVPAQ ECPCYAHGTV LAPGEVVHDE GAVCSCTGGK
LSCLGASLQK STGCAAPMVY LDCSNSSAGT PGAECLRSCH TLDVGCFSTH CVSGCVCPPG
LVSDGSGGCI AEEDCPCVHN EATYKPGETI RVDCNTCTCR NRRWECSHRL CLGTCVAYGD
GHFITFDGDR YSFEGSCEYI LAQDYCGDNT THGTFRIVTE NIPCGTTGTT CSKAIKLFVE
SYELILQEGT FKAVARGPGG DPPYKIRYMG IFLVIETHGM AVSWDRKTSV FIRLHQDYKG
RVCGLCGNFD DNAINDFATR SRSVVGDALE FGNSWKLSPS CPDALAPKDP CTANPFRKSW
AQKQCSILHG PTFAACRSQV DSTKYYEACV NDACACDSGG DCECFCTAVA AYAQACHDAG
LCVSWRTPDT CPLFCDFYNP HGGCEWHYQP CGAPCLKTCR NPSGHCLVDL PGLEGCYPKC
PPSQPFFNED QMKCVAQCGC YDKDGNYYDV GARVPTAENC QSCNCTPSGI QCAHSLEACT
CTYEDRTYSY QDVIYNTTDG LGACLIAICG SNGTIIRKAV ACPGTPATTP FTFTTAWVPH
STTSPALPVS TVCVREVCRW SSWYNGHRPE PGLGGGDFET FENLRQRGYQ VCPVLADIEC
RAAQLPDMPL EELGQQVDCD RMRGLMCANS QQSPPLCHDY ELRVLCCEYV PCGPSPAPGT
SPQPSLSAST EPAVPTPTQT TATEKTTLWV TPSIRSTAAL TSQTGSSSGP VTVTPSAPGT
TTCQPRCQWT EWFDEDYPKS EQLGGDVESY DKIRAAGGHL CQQPKDIECQ AESFPNWTLA
QVGQKVHCDV HFGLVCRNWE QEGVFKMCYN YRIRVLCCSD DHCRGRATTP PPTTELETAT
TTTTQALFST PQPTSSPGLT RAPPASTTAV PTLSEGLTSP RYTSTLGTAT TGGPTTPAGS
TEPTVPGVAT STLPTRSALP GTTGSLGTWR PSQPPTLAPT TMATSRARPT GTASTASKEP
LTTSLAPTLT SELSTSQAET STPRTETTMS PLTNTTTSQG TTRCQPKCEW TEWFDVDFPT
SGVAGGDMET FENIRAAGGK MCWAPKSIEC RAENYPEVSI DQVGQVLTCS LETGLTCKNE
DQTGRFNMCF NYNVRVLCCD DYSHCPSTPA TSSTATPSST PGTTWILTKP TTTATTTAST
GSTATPTSTL RTAPPPKVLT TTATTPTVTS SKATPSSSPG TATALPALRS TATTPTATSV
TPIPSSSLGT TWTRLSQTTT PTATMSTATP SSTPETAHTS TVLTATATTT GATGSVATPS
STPGTAHTTK VPTTTTTGFT ATPSSSPGTA LTPPVWISTT TTPTTRGSTV TPSSIPGTTH
TATVLTTTTT TVATGSMATP SSSTQTSGTP PSLTTTATTI TATGSTTNPS STPGTTPIPP
VLTTTATTPA ATSNTVTPSS ALGTTHTPPV PNTMATTHGR SLPPSSPHTV RTAWTSATSG
ILGTTHITEP STVTSHTLAA TTGTTQHSTP ALSSPHPSSR TTESPPSPGT TTPGHTTATS
RTTATATPSK TRTSTLLPSS PTSAPITTVV TMGCEPQCAW SEWLDYSYPM PGPSGGDFDT
YSNIRAAGGA VCEQPLGLEC RAQAQPGVPL RELGQVVECS LDFGLVCRNR EQVGKFKMCF
NYEIRVFCCN YGHCPSTPAT SSTAMPSSTP GTTWILTELT TTATTTESTG STATPSSTPG
TTWILTEPST TATVTVPTGS TATASSTQAT AGTPHVSTTA TTPTVTSSKA TPFSSPGTAT
ALPALRSTAT TPTATSFTAI PSSSLGTTWT RLSQTTTPTA TMSTATPSST PETVHTSTVL
TTTATTTGAT GSVATPSSTP GTAHTTKVLT TTTTGFTATP SSSPGTARTL PVWISTTTTP
TTRGSTVTPS SIPGTTHTPT VLTTTTTTVA TGSMATPSSS TQTSGTPPSL TTTATTITAT
GSTTNPSSTP GTTPIPPVLT TTATTPAATS STVTPSSALG TTHTPPVPNT TATTHGRSLS
PSSPHTVRTA WTSATSGTLG TTHITEPSTG TSHTPAATTG TTQHSTPALS SPHPSSRTTE
SPPSPGTTTP GHTRATSRTT ATATPSKTRT STLLPSSPTS APITTVVTMG CEPQCAWSEW
LDYSYPMPGP SGGDFDTYSN IRAAGGAVCE QPLGLECRAQ AQPGVPLREL GQVVECSLDF
GLVCRNREQV GKFKMCFNYE IRVFCCNYGH CPSTPATSST ATPSSTPGTT WILTEQTTAA
TTTATTGSTA IPSSTPGTAP PPKVLTSTAT TPTATSSKAT SSSSPRTATT LPVLTSTATK
STATSFTPIP SFTLGTTGTL PEQTTTPMAT MSTIHPSSTP ETTHTSTVLT TKATTTRATS
SMSTPSSTPG TTWILTELTT AATTTAATGP TATPSSTPGT TWILTEPSTT ATVTVPTGST
ATASSTRATA GTLKVLTSTA TTPTVISSRA TPSSSPGTAT ALPALRSTAT TPTATSVTAI
PSSSLGTAWT RLSQTTTPTA TMSTATPSST PETVHTSTVL TTTTTTTRAT GSVATPSSTP
GTAHTTKVPT TTTTGFTATP SSSPGTALTP PVWISTTTTP TTRGSTVTPS SIPGTTHTAT
VLTTTTTTVA TGSMATPSSS TQTSGTPPSL TTTATTITAT GSTTNPSSTP GTTPIPPVLT
TTATTPAATS STVTPSSALG TTHTPPVPNT TATTHGRSLP PSSPHTVRTA WTSATSGILG
TTHITEPSTV TSHTPAATTS TTQHSTPALS SPHPSSRTTE SPPSPGTTTP GHTRGTSRTT
ATATPSKTRT STLLPSSPTS APITTVVTTG CEPQCAWSEW LDYSYPMPGP SGGDFDTYSN
IRAAGGAVCE QPLGLECRAQ AQPGVPLREL GQVVECSLDF GLVCRNREQV GKFKMCFNYE
IRVFCCNYGH CPSTPATSST ATPSSTPGTT WILTKLTTTA TTTESTGSTA TPSSTPGTTW
ILTEPSTTAT VTVPTGSTAT ASSTQATAGT PHVSTTATTP TVTSSKATPF SSPGTATALP
ALRSTATTPT ATSFTAIPSS SLGTTWTRLS QTTTPTATMS TATPSSTPET AHTSTVLTTT
ATTTRATGSV ATPSSTPGTA HTTKVPTTTT TGFTVTPSSS PGTARTPPVW ISTTTTPTTS
GSTVTPSSVP GTTHTPTVLT TTTTTVATGS MATPSSSTQT SGTPPSLITT ATTITATGST
TNPSSTPGTT PIPPVLTTTA TTPAATSSTV TPSSALGTTH TPPVPNTTAT THGRSLSPSS
PHTVRTAWTS ATSGTLGTTH ITEPSTGTSH TPAATTGTTQ HSTPALSSPH PSSRTTESPP
SPGTTTPGHT TATSRTTATA TPSKTRTSTL LPSSPTSAPI TTVVTTGCEP QCAWSEWLDY
SYPMPGPSGG DFDTYSNIRA AGGAVCEQPL GLECRAQAQP GVPLGELGQV VECSLDFGLV
CRNREQVGKF KMCFNYEIRV FCCNYGHCPS TPATSSTAMP SSTPGTTWIL TELTTTATTT
ASTGSTATPS STPGTAPPPK VLTSPATTPT ATSSKATSSS SPRTATTLPV LTSTATKSTA
TSVTPIPSST LGTTGTLPEQ TTTPVATMST IHPSSTPETT HTSTVLTTKA TTTRATSSTS
TPSSTPGTTW ILTELTTAAT TTAATGPTAT PSSTPGTTWI LTELTTTATT TASTGSTATP
SSTPGTTWIL TEPSTTATVT VPTGSTATAS STQATAGTPH VSTTATTPTV TSSKATPSSS
PGTATALPAL RSTATTPTAT SFTAIPSSSL GTTWTRLSQT TTPTATMSTA TPSSTPETVH
TSTVLTATAT TTGATGSVAT PSSTPGTAHT TKVPTTTTTG FTATPSSSPG TALTPPVWIS
TTTTPTTTTP TTSGSTVTPS SIPGTTHTAR VLTTTTTTVA TGSMATPSSS TQTSGTPPSL
TTTATTITAT GSTTNPSSTP GTTPITPVLT STATTPAATS SKATSSSSPR TATTLPVLTS
TATKSTATSF TPIPSSTLWT TWTVPAQTTT PMSTMSTIHT SSTPETTHTS TVLTTTATMT
RATNSTATPS STLGTTRILT ELTTTATTTA ATGSTATLSS TPGTTWILTE PSTIATVMVP
TGSTATASST LGTAHTPKVV TTMATMPTAT ASTVPSSSTV GTTRTPAVLP SSLPTFSVST
VSSSVLTTLR PTGFPSSHFS TPCFCRAFGQ FFSPGEVIYN KTDRAGCHFY AVCNQHCDID
RFQGACPTSP PPVSSAPLSS PSPAPGCDNA IPLRQVNETW TLENCTVARC VGDNRVVLLD
PKPVANVTCV NKHLPIKVSD PSQPCDFHYE CECICSMWGG SHYSTFDGTS YTFRGNCTYV
LMREIHARFG NLSLYLDNHY CTASATAAAA RCPRALSIHY KSMDIVLTVT MVHGKEEGLI
LFDQIPVSSG FSKNGVLVSV LGTTTMRVDI PALGVSVTFN GQVFQARLPY SLFHNNTEGQ
CGTCTNNQRD DCLQRDGTTA ASCKDMAKTW LVPDSRKDGC WAPTGTPPTA SPAAPVSSTP
TPTPCPPQPL CDLMLSQVFA ECHNLVPPGP FFNACISDHC RGRLEVPCQS LEAYAELCRA
RGVCSDWRGA TGGLCDLTCP PTKVYKPCGP IQPATCNSRN QSPQLEGMAE GCFCPEDQIL
FNAHMGICVQ ACPCVGPDGF PKFPGERWVS NCQSCVCDEG SVSVQCKPLP CDAQGQPPPC
NRPGFVTVTR PRAENPCCPE TVCVCNTTTC PQSLPVCPPG QESICTQEEG DCCPTFRCRP
QLCSYNGTFY GVGATFPGAL PCHMCTCLSG DTQDPTVQCQ EDACNNTTCP QGFEYKRVAG
QCCGECVQTA CLTPDGQPVQ LNETWVNSHV DNCTVYLCEA EGGVHLLTPQ PASCPDVSSC
RGSLRKTGCC YSCEEDSCQV RINTTILWHQ GCETEVNITF CEGSCPGASK YSAEAQAMQH
QCTCCQERRV HEETVPLHCP NGSAILHTYT HVDECGCTPF CVPAPMAPPH TRGFPAQEAT
AV*
mutated AA sequence MGAPSACRTL VLALAAMLVV PQAETQGPVE PSWGNAGHTM DGGAPTSSPT RRVSFVPPVT
VFPSLSPLNP AHNGRVCSTW GDFHYKTFDG DVFRFPGLCN YVFSEHCRAA YEDFNVQLRR
GLVGSRPVVT RVVIKAQGLV LEASNGSVLI NGQREELPYS RTGLLVEQSG DYIKVSIRLV
LTFLWNGEDS ALLELDPKYA NQTCGLCGDF NGLPAFNEFY AHNARLTPLQ FGNLQKLDGP
TEQCPDPLPL PAGNCTDEEG ICHRTLLGPA FAECHALVDS TAYLAACAQD LCRCPTCPCA
TFVEYSRQCA HAGGQPRNWR CPELCPRTCP LNMQHQECGS PCTDTCSNPQ RAQLCEDHCV
DGCFCPPGTV LDDITHSGCL PLGQCPCTHG GRTYSPGTSF NTTCSSCTCS GGLWQCQDLP
CPGTCSVQGG AHISTYDEKL YDLHGDCSYV LSKKCADSSF TVLAELRKCG LTDNENCLKA
VTLSLDGGDT AIRVQADGGV FLNSIYTQLP LSAANITLFT PSSFFIVVQT GLGLQLLVQL
VPLMQVFVRL DPAHQGQMCG LCGNFNQNQA DDFTALSGVV EATGAAFANT WKAQAACANA
RNSFEDPCSL SVENENYARH WCSRLTDPNS AFSRCHSIIN PKPFHSNCMF DTCNCERSED
CLCAALSSYV HACAAKGVQL SDWRDGVCTK YMQNCPKSQR YAYVVDACQP TCRGLSEADV
TCSVSFVPVD GCTCPAGTFL NDAGACVPAQ ECPCYAHGTV LAPGEVVHDE GAVCSCTGGK
LSCLGASLQK STGCAAPMVY LDCSNSSAGT PGAECLRSCH TLDVGCFSTH CVSGCVCPPG
LVSDGSGGCI AEEDCPCVHN EATYKPGETI RVDCNTCTCR NRRWECSHRL CLGTCVAYGD
GHFITFDGDR YSFEGSCEYI LAQDYCGDNT THGTFRIVTE NIPCGTTGTT CSKAIKLFVE
SYELILQEGT FKAVARGPGG DPPYKIRYMG IFLVIETHGM AVSWDRKTSV FIRLHQDYKG
RVCGLCGNFD DNAINDFATR SRSVVGDALE FGNSWKLSPS CPDALAPKDP CTANPFRKSW
AQKQCSILHG PTFAACRSQV DSTKYYEACV NDACACDSGG DCECFCTAVA AYAQACHDAG
LCVSWRTPDT CPLFCDFYNP HGGCEWHYQP CGAPCLKTCR NPSGHCLVDL PGLEGCYPKC
PPSQPFFNED QMKCVAQCGC YDKDGNYYDV GARVPTAENC QSCNCTPSGI QCAHSLEACT
CTYEDRTYSY QDVIYNTTDG LGACLIAICG SNGTIIRKAV ACPGTPATTP FTFTTAWVPH
STTSPALPVS TVCVREVCRW SSWYNGHRPE PGLGGGDFET FENLRQRGYQ VCPVLADIEC
RAAQLPDMPL EELGQQVDCD RMRGLMCANS QQSPPLCHDY ELRVLCCEYV PCGPSPAPGT
SPQPSLSAST EPAVPTPTQT TATEKTTLWV TPSIRSTAAL TSQTGSSSGP VTVTPSAPGT
TTCQPRCQWT EWFDEDYPKS EQLGGDVESY DKIRAAGGHL CQQPKDIECQ AESFPNWTLA
QVGQKVHCDV HFGLVCRNWE QEGVFKMCYN YRIRVLCCSD DHCRGRATTP PPTTELETAT
TTTTQALFST PQPTSSPGLT RAPPASTTAV PTLSEGLTSP RYTSTLGTAT TGGPTTPAGS
TEPTVPGVAT STLPTRSALP GTTGSLGTWR PSQPPTLAPT TMATSRARPT GTASTASKEP
LTTSLAPTLT SELSTSQAET STPRTETTMS PLTNTTTSQG TTRCQPKCEW TEWFDVDFPT
SGVAGGDMET FENIRAAGGK MCWAPKSIEC RAENYPEVSI DQVGQVLTCS LETGLTCKNE
DQTGRFNMCF NYNVRVLCCD DYSHCPSTPA TSSTATPSST PGTTWILTKP TTTATTTAST
GSTATPTSTL RTAPPPKVLT TTATTPTVTS SKATPSSSPG TATALPALRS TATTPTATSV
TPIPSSSLGT TWTRLSQTTT PTATMSTATP SSTPETAHTS TVLTATATTT GATGSVATPS
STPGTAHTTK VPTTTTTGFT ATPSSSPGTA LTPPVWISTT TTPTTRGSTV TPSSIPGTTH
TATVLTTTTT TVATGSMATP SSSTQTSGTP PSLTTTATTI TATGSTTNPS STPGTTPIPP
VLTTTATTPA ATSNTVTPSS ALGTTHTPPV PNTMATTHGR SLPPSSPHTV RTAWTSATSG
ILGTTHITEP STVTSHTLAA TTGTTQHSTP ALSSPHPSSR TTESPPSPGT TTPGHTTATS
RTTATATPSK TRTSTLLPSS PTSAPITTVV TMGCEPQCAW SEWLDYSYPM PGPSGGDFDT
YSNIRAAGGA VCEQPLGLEC RAQAQPGVPL RELGQVVECS LDFGLVCRNR EQVGKFKMCF
NYEIRVFCCN YGHCPSTPAT SSTAMPSSTP GTTWILTELT TTATTTESTG STATPSSTPG
TTWILTEPST TATVTVPTGS TATASSTQAT AGTPHVSTTA TTPTVTSSKA TPFSSPGTAT
ALPALRSTAT TPTATSFTAI PSSSLGTTWT RLSQTTTPTA TMSTATPSST PETVHTSTVL
TTTATTTGAT GSVATPSSTP GTAHTTKVLT TTTTGFTATP SSSPGTARTL PVWISTTTTP
TTRGSTVTPS SIPGTTHTPT VLTTTTTTVA TGSMATPSSS TQTSGTPPSL TTTATTITAT
GSTTNPSSTP GTTPIPPVLT TTATTPAATS STVTPSSALG TTHTPPVPNT TATTHGRSLS
PSSPHTVRTA WTSATSGTLG TTHITEPSTG TSHTPAATTG TTQHSTPALS SPHPSSRTTE
SPPSPGTTTP GHTRATSRTT ATATPSKTRT STLLPSSPTS APITTVVTMG CEPQCAWSEW
LDYSYPMPGP SGGDFDTYSN IRAAGGAVCE QPLGLECRAQ AQPGVPLREL GQVVECSLDF
GLVCRNREQV GKFKMCFNYE IRVFCCNYGH CPSTPATSST ATPSSTPGTT WILTEQTTAA
TTTATTGSTA IPSSTPGTAP PPKVLTSTAT TPTATSSKAT SSSSPRTATT LPVLTSTATK
STATSFTPIP SFTLGTTGTL PEQTTTPMAT MSTIHPSSTP ETTHTSTVLT TKATTTRATS
SMSTPSSTPG TTWILTELTT AATTTAATGP TATPSSTPGT TWILTEPSTT ATVTVPTGST
ATASSTRATA GTLKVLTSTA TTPTVISSRA TPSSSPGTAT ALPALRSTAT TPTATSVTAI
PSSSLGTAWT RLSQTTTPTA TMSTATPSST PETVHTSTVL TTTTTTTRAT GSVATPSSTP
GTAHTTKVPT TTTTGFTATP SSSPGTALTP PVWISTTTTP TTRGSTVTPS SIPGTTHTAT
VLTTTTTTVA TGSMATPSSS TQTSGTPPSL TTTATTITAT GSTTNPSSTP GTTPIPPVLT
TTATTPAATS STVTPSSALG TTHTPPVPNT TATTHGRSLP PSSPHTVRTA WTSATSGILG
TTHITEPSTV TSHTPAATTS TTQHSTPALS SPHPSSRTTE SPPSPGTTTP GHTRGTSRTT
ATATPSKTRT STLLPSSPTS APITTVVTTG CEPQCAWSEW LDYSYPMPGP SGGDFDTYSN
IRAAGGAVCE QPLGLECRAQ AQPGVPLREL GQVVECSLDF GLVCRNREQV GKFKMCFNYE
IRVFCCNYGH CPSTPATSST ATPSSTPGTT WILTKLTTTA TTTESTGSTA TPSSTPGTTW
ILTEPSTTAT VTVPTGSTAT ASSTQATAGT PHVSTTATTP TVTSSKATPF SSPGTATALP
ALRSTATTPT ATSFTAIPSS SLGTTWTRLS QTTTPTATMS TATPSSTPET AHTSTVLTTT
ATTTRATGSV ATPSSTPGTA HTTKVPTTTT TGFTVTPSSS PGTARTPPVW ISTTTTPTTS
GSTVTPSSVP GTTHTPTVLT TTTTTVATGS MATPSSSTQT SGTPPSLITT ATTITATGST
TNPSSTPGTT PIPPVLTTTA TTPAATSSTV TPSSALGTTH TPPVPNTTAT THGRSLSPSS
PHTVRTAWTS ATSGTLGTTH ITEPSTGTSH TPAATTGTTQ HSTPALSSPH PSSRTTESPP
SPGTTTPGHT TATSRTTATA TPSKTRTSTL LPSSPTSAPI TTVVTTGCEP QCAWSEWLDY
SYPMPGPSGG DFDTYSNIRA AGGAVCEQPL GLECRAQAQP GVPLGELGQV VECSLDFGLV
CRNREQVGKF KMCFNYEIRV FCCNYGHCPS TPATSSTAMP SSTPGTTWIL TELTTTATTT
ASTGSTATPS STPGTAPPPK VLTSPATTPT ATSSKATSSS SPRTATTLPV LTSTATKSTA
TSVTPIPSST LGTTGTLPEQ TTTPVATMST IHPSSTPETT HTSTVLTTKA TTTRATSSTS
TPSSTPGTTW ILTELTTAAT TTAATGPTAT PSSTPGTTWI LTELTTTATT TASTGSTATP
SSTPGTTWIL TEPSTTATVT VPTGSTATAS STQATAGTPH VSTTATTPTV TSSKATPSSS
PGTATALPAL RSTATTPTAT SFTAIPSSSL GTTWTRLSQT TTPTATMSTA TPSSTPETVH
TSTVLTATAT TTGATGSVAT PSSTPGTAHT TKVPTTTTTG FTATPSSSPG TALTPPVWIS
TTTTPTTTTP TTSGSTVTPS SIPGTTHTAR VLTTTTTTVA TGSMATPSSS TQTSGTPPSL
TTTATTITAT GSTTNPSSTP GTTPITPVLT STATTPAATS SKATSSSSPR TATTLPVLTS
TATKSTATSF TPIPSSTLWT TWTVPAQTTT PMSTMSTIHT SSTPETTHTS TVLTTTATMT
RATNSTATPS STLGTTRILT ELTTTATTTA ATGSTATLSS TPGTTWILTE PSTIATVMVP
TGSTATASST LGTAHTPKVV TTMATMPTAT ASTVPSSSTV GTTRTPAVLP SSLPTFSVST
VSSSVLTTLR PTGFPSSHFS TPCFCRAFGQ FFSPGEVIYN KTDRAGCHFY AVCNQHCDID
RFQGACPTSP PPVSSAPLSS PSPAPGCDNA IPLRQVNETW TLENCTVARC VGDNRVVLLD
PKPVANVTCV NKHLPIKVSD PSQPCDFHYE CECICSMWGG SHYSTFDGTS YTFRGNCTYV
LMREIHARFG NLSLYLDNHY CTASATAAAA RCPRALSIHY KSMDIVLTVT MVHGKEEGLI
LFDQIPVSSG FSKNGVLVSV LGTTTMRVDI PALGVSVTFN GQVFQARLPY SLFHNNTEGQ
CGTCTNNQRD DCLQRDGTTA ASCKDMAKTW LVPDSRKDGC WAPTGTPPTA SPAAPVSSTP
TPTPCPPQPL CDLMLSQVFA ECHNLVPPGP FFNACISDHC RGRLEVPCQS LEAYAELCRA
RGVCSDWRGA TGGLCDLTCP PTKVYKPCGP IQPATCNSRN QSPQLEGMAE GCFCPEDQIL
FNAHMGICVQ ACPCVGPDGF PKFPGERWVS NCQSCVCDEG SVSVQCKPLP CDAQGQPPPC
NRPGFVTVTR PRAENPCCPE TVCVCNTTTC PQSLPVCPPG QESICTQEEG DCCPTFRCRP
QLCSYNGTFY GVGATFPGAL PCHMCTCLSG DTQDPTVQCQ EDACNNTTCP QGFEYKRVAG
QCCGECVQTA CLTPDGQPVQ LNETWVNSHV DNCTVYLCEA EGGVHLLTPQ PASCPDVSSC
RGSLRKTGCC YSCEEDSCQV RINTTILWHQ GCETEVNITF CEGSCPGASK YSAEAQAMQH
QCTCCQERRV HEETVPLHCP NGSAILHTYT HVDECGCTPF CVPAPMAPPH TRGFPAQEAT
AV*
speed 0.93 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