Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999943488597474 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM107902)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:43762196C>TN/A show variant in all transcripts   IGV
HGNC symbol TP53BP1
Ensembl transcript ID ENST00000263801
Genbank transcript ID NM_005657
UniProt peptide Q12888
alteration type single base exchange
alteration region CDS
DNA changes c.1234G>A
cDNA.1487G>A
g.40731G>A
AA changes G412S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 412
frameshift no
known variant Reference ID: rs689647
databasehomozygous (T/T)heterozygousallele carriers
1000G5059051410
ExAC42131656220775

known disease mutation at this position, please check HGMD for details (HGMD ID CM107902)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gata2, Transcription Factor, Gata2 Transcription Factor Binding
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
Junb, Transcription Factor, Junb Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5150.59
3.3990.592
(flanking)0.0670.098
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased40731wt: 0.9055 / mu: 0.9697 (marginal change - not scored)wt: AAAGTGGTGAACCAG
mu: AAAGTAGTGAACCAG		 AGTG|gtga
Donor gained407260.94mu: ACTTCAAAGTAGTGA TTCA|aagt
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      412GGEPFQKKLQSGEPVELENPPLLP
mutated  not conserved    412GGEPFQKKLQSSEPVELENP
Ptroglodytes  all identical  ENSPTRG00000006994  417GGEPFQKKLQSGEPVELENP
Mmulatta  not conserved  ENSMMUG00000017078  412GGEPFQKKLQSDEPVELENH
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000043909  414GGEPFQK-LHDDEAMETEKP
Ggallus  not conserved  ENSGALG00000008521  412RLMQEEQKRDVLVEMVIPPGP
Trubripes  not conserved  ENSTRUG00000013399  396KEEPMDTETV---
Drerio  not conserved  ENSDARG00000079000  338-QPQGREEEPMDTDPCP--
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
452452MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
500500MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
522522MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
523523MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
525525MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
543543MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
548548MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
552552MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
566566MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
580580MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
625625MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
635635MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
639639MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
640640MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
659659MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
660660MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
750750MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
751751MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
754754MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
755755MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
771771MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
782782MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
784784MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
796796CONFLICTP -> S (in Ref. 3; CAD97660).might get lost (downstream of altered splice site)
809809MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
831831MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
834834MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
855855MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
876876MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
877877MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
892892MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
993993MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
996996MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
999999MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10021002MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10201020MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10281028MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10551055MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10561056MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10681068MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10941094MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11011101MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11041104MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11131113MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11141114MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11711171MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12141214MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12161216MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12191219MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12901290MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13161316MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13171317MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13201320MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13621362MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13681368MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13721372MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
13961396MUTAGENR->K: No detectable effect on methylation by PRMT1 (in vitro).might get lost (downstream of altered splice site)
13961396MUTAGENR->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1398; A-1400; A- 1401 and A-1403.might get lost (downstream of altered splice site)
13961403MOTIFGAR.might get lost (downstream of altered splice site)
13981398MUTAGENR->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1400. Strongly reduced methylation; when associated with K-1401.might get lost (downstream of altered splice site)
13981398MUTAGENR->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1400; A- 1401 and A-1403.might get lost (downstream of altered splice site)
14001400MUTAGENR->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1401.might get lost (downstream of altered splice site)
14001400MUTAGENR->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1401 and A-1403.might get lost (downstream of altered splice site)
14011401MUTAGENR->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1400 and A-1403.might get lost (downstream of altered splice site)
14011401MUTAGENR->K: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1400.might get lost (downstream of altered splice site)
14031403MUTAGENR->A: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A- 1400 and A-1401.might get lost (downstream of altered splice site)
14031403MUTAGENR->K: No detectable effect on methylation by PRMT1 (in vitro).might get lost (downstream of altered splice site)
14261426MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14301430MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14351435MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14601460MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14621462MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14741474MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14831604REGIONTudor-like.might get lost (downstream of altered splice site)
14901494STRANDmight get lost (downstream of altered splice site)
14951495MUTAGENW->V: Reduces recruitment to double strand breaks.might get lost (downstream of altered splice site)
14951495MUTAGENW->A,H: Loss of interaction with histone H4 that has been dimethylated at 'Lys- 20'.might get lost (downstream of altered splice site)
14951495MUTAGENW->F: No effect on recruitment to double strand breaks.might get lost (downstream of altered splice site)
14951523REGIONInteraction with dimethylated histone H4.might get lost (downstream of altered splice site)
14961498TURNmight get lost (downstream of altered splice site)
15001500MUTAGENY->A: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'.might get lost (downstream of altered splice site)
15011511STRANDmight get lost (downstream of altered splice site)
15021502MUTAGENY->A: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'.might get lost (downstream of altered splice site)
15021502MUTAGENY->L,Q: Abolishes recruitment to double strand breaks.might get lost (downstream of altered splice site)
15141519STRANDmight get lost (downstream of altered splice site)
15211521MUTAGEND->A: Loss of interaction with histone H4 that has been dimethylated at 'Lys-20'. Abolishes recruitment to double strand breaks.might get lost (downstream of altered splice site)
15211521MUTAGEND->R: Abolishes recruitment to double strand breaks.might get lost (downstream of altered splice site)
15231523MUTAGENY->S: Decreases affinity for histone H4 that has been dimethylated at 'Lys-20'.might get lost (downstream of altered splice site)
15231523MUTAGENY->A: Increases affinity for histone H4 that has been dimethylated at 'Lys-20'. No effect on recruitment to double strand breaks.might get lost (downstream of altered splice site)
15241528STRANDmight get lost (downstream of altered splice site)
15291531HELIXmight get lost (downstream of altered splice site)
15431547STRANDmight get lost (downstream of altered splice site)
15531564STRANDmight get lost (downstream of altered splice site)
15671574STRANDmight get lost (downstream of altered splice site)
15771582STRANDmight get lost (downstream of altered splice site)
15831585HELIXmight get lost (downstream of altered splice site)
15861588STRANDmight get lost (downstream of altered splice site)
15901594HELIXmight get lost (downstream of altered splice site)
15971600HELIXmight get lost (downstream of altered splice site)
16001600CONFLICTY -> C (in Ref. 3; CAD97660).might get lost (downstream of altered splice site)
16091609MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16181618MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16311631MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16341634MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16351635MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16381638MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16401640MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16421646COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
16431643MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16451645MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16461646MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16471647MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16481648MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16721672MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16731673MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16781678MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16921693CONFLICTMissing (in Ref. 2; BAE06107).might get lost (downstream of altered splice site)
17011701MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17051705MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17091709MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17151719HELIXmight get lost (downstream of altered splice site)
17241848DOMAINBRCT 1.might get lost (downstream of altered splice site)
17261731TURNmight get lost (downstream of altered splice site)
17321736STRANDmight get lost (downstream of altered splice site)
17411745HELIXmight get lost (downstream of altered splice site)
17601764COMPBIASPoly-Glu.might get lost (downstream of altered splice site)
17731781HELIXmight get lost (downstream of altered splice site)
17821784TURNmight get lost (downstream of altered splice site)
17931799TURNmight get lost (downstream of altered splice site)
18011808STRANDmight get lost (downstream of altered splice site)
18131821HELIXmight get lost (downstream of altered splice site)
18251827STRANDmight get lost (downstream of altered splice site)
18291837HELIXmight get lost (downstream of altered splice site)
18431845HELIXmight get lost (downstream of altered splice site)
18511853STRANDmight get lost (downstream of altered splice site)
18541857TURNmight get lost (downstream of altered splice site)
18581860STRANDmight get lost (downstream of altered splice site)
18641964DOMAINBRCT 2.might get lost (downstream of altered splice site)
18681871TURNmight get lost (downstream of altered splice site)
18731879STRANDmight get lost (downstream of altered splice site)
18811884TURNmight get lost (downstream of altered splice site)
18851894HELIXmight get lost (downstream of altered splice site)
18981908STRANDmight get lost (downstream of altered splice site)
19141916HELIXmight get lost (downstream of altered splice site)
19181922STRANDmight get lost (downstream of altered splice site)
19281937HELIXmight get lost (downstream of altered splice site)
19441953HELIXmight get lost (downstream of altered splice site)
19581958CONFLICTG -> R (in Ref. 3; CAD97660).might get lost (downstream of altered splice site)
19631965HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5919 / 5919
position (AA) of stopcodon in wt / mu AA sequence 1973 / 1973
position of stopcodon in wt / mu cDNA 6172 / 6172
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 254 / 254
chromosome 15
strand -1
last intron/exon boundary 5985
theoretical NMD boundary in CDS 5681
length of CDS 5919
coding sequence (CDS) position 1234
cDNA position
(for ins/del: last normal base / first normal base)		 1487
gDNA position
(for ins/del: last normal base / first normal base)		 40731
chromosomal position
(for ins/del: last normal base / first normal base)		 43762196
original gDNA sequence snippet TTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGAGTTAGAA
altered gDNA sequence snippet TTCAGAAGAAACTTCAAAGTAGTGAACCAGTGGAGTTAGAA
original cDNA sequence snippet TTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGAGTTAGAA
altered cDNA sequence snippet TTCAGAAGAAACTTCAAAGTAGTGAACCAGTGGAGTTAGAA
wildtype AA sequence MDPTGSQLDS DFSQQDTPCL IIEDSQPESQ VLEDDSGSHF SMLSRHLPNL QTHKENPVLD
VVSNPEQTAG EERGDGNSGF NEHLKENKVA DPVDSSNLDT CGSISQVIEQ LPQPNRTSSV
LGMSVESAPA VEEEKGEELE QKEKEKEEDT SGNTTHSLGA EDTASSQLGF GVLELSQSQD
VEENTVPYEV DKEQLQSVTT NSGYTRLSDV DANTAIKHEE QSNEDIPIAE QSSKDIPVTA
QPSKDVHVVK EQNPPPARSE DMPFSPKASV AAMEAKEQLS AQELMESGLQ IQKSPEPEVL
STQEDLFDQS NKTVSSDGCS TPSREEGGCS LASTPATTLH LLQLSGQRSL VQDSLSTNSS
DLVAPSPDAF RSTPFIVPSS PTEQEGRQDK PMDTSVLSEE GGEPFQKKLQ SGEPVELENP
PLLPESTVSP QASTPISQST PVFPPGSLPI PSQPQFSHDI FIPSPSLEEQ SNDGKKDGDM
HSSSLTVECS KTSEIEPKNS PEDLGLSLTG DSCKLMLSTS EYSQSPKMES LSSHRIDEDG
ENTQIEDTEP MSPVLNSKFV PAENDSILMN PAQDGEVQLS QNDDKTKGDD TDTRDDISIL
ATGCKGREET VAEDVCIDLT CDSGSQAVPS PATRSEALSS VLDQEEAMEI KEHHPEEGSS
GSEVEEIPET PCESQGEELK EENMESVPLH LSLTETQSQG LCLQKEMPKK ECSEAMEVET
SVISIDSPQK LAILDQELEH KEQEAWEEAT SEDSSVVIVD VKEPSPRVDV SCEPLEGVEK
CSDSQSWEDI APEIEPCAEN RLDTKEEKSV EYEGDLKSGT AETEPVEQDS SQPSLPLVRA
DDPLRLDQEL QQPQTQEKTS NSLTEDSKMA NAKQLSSDAE AQKLGKPSAH ASQSFCESSS
ETPFHFTLPK EGDIIPPLTG ATPPLIGHLK LEPKRHSTPI GISNYPESTI ATSDVMSESM
VETHDPILGS GKGDSGAAPD VDDKLCLRMK LVSPETEASE ESLQFNLEKP ATGERKNGST
AVAESVASPQ KTMSVLSCIC EARQENEARS EDPPTTPIRG NLLHFPSSQG EEEKEKLEGD
HTIRQSQQPM KPISPVKDPV SPASQKMVIQ GPSSPQGEAM VTDVLEDQKE GRSTNKENPS
KALIERPSQN NIGIQTMECS LRVPETVSAA TQTIKNVCEQ GTSTVDQNFG KQDATVQTER
GSGEKPVSAP GDDTESLHSQ GEEEFDMPQP PHGHVLHRHM RTIREVRTLV TRVITDVYYV
DGTEVERKVT EETEEPIVEC QECETEVSPS QTGGSSGDLG DISSFSSKAS SLHRTSSGTS
LSAMHSSGSS GKGAGPLRGK TSGTEPADFA LPSSRGGPGK LSPRKGVSQT GTPVCEEDGD
AGLGIRQGGK APVTPRGRGR RGRPPSRTTG TRETAVPGPL GIEDISPNLS PDDKSFSRVV
PRVPDSTRRT DVGAGALRRS DSPEIPFQAA AGPSDGLDAS SPGNSFVGLR VVAKWSSNGY
FYSGKITRDV GAGKYKLLFD DGYECDVLGK DILLCDPIPL DTEVTALSED EYFSAGVVKG
HRKESGELYY SIEKEGQRKW YKRMAVILSL EQGNRLREQY GLGPYEAVTP LTKAADISLD
NLVEGKRKRR SNVSSPATPT ASSSSSTTPT RKITESPRAS MGVLSGKRKL ITSEEERSPA
KRGRKSATVK PGAVGAGEFV SPCESGDNTG EPSALEEQRG PLPLNKTLFL GYAFLLTMAT
TSDKLASRSK LPDGPTGSSE EEEEFLEIPP FNKQYTESQL RAGAGYILED FNEAQCNTAY
QCLLIADQHC RTRKYFLCLA SGIPCVSHVW VHDSCHANQL QNYRNYLLPA GYSLEEQRIL
DWQPRENPFQ NLKVLLVSDQ QQNFLELWSE ILMTGGAASV KQHHSSAHNK DIALGVFDVV
VTDPSCPASV LKCAEALQLP VVSQEWVIQC LIVGERIGFK QHPKYKHDYV SH*
mutated AA sequence MDPTGSQLDS DFSQQDTPCL IIEDSQPESQ VLEDDSGSHF SMLSRHLPNL QTHKENPVLD
VVSNPEQTAG EERGDGNSGF NEHLKENKVA DPVDSSNLDT CGSISQVIEQ LPQPNRTSSV
LGMSVESAPA VEEEKGEELE QKEKEKEEDT SGNTTHSLGA EDTASSQLGF GVLELSQSQD
VEENTVPYEV DKEQLQSVTT NSGYTRLSDV DANTAIKHEE QSNEDIPIAE QSSKDIPVTA
QPSKDVHVVK EQNPPPARSE DMPFSPKASV AAMEAKEQLS AQELMESGLQ IQKSPEPEVL
STQEDLFDQS NKTVSSDGCS TPSREEGGCS LASTPATTLH LLQLSGQRSL VQDSLSTNSS
DLVAPSPDAF RSTPFIVPSS PTEQEGRQDK PMDTSVLSEE GGEPFQKKLQ SSEPVELENP
PLLPESTVSP QASTPISQST PVFPPGSLPI PSQPQFSHDI FIPSPSLEEQ SNDGKKDGDM
HSSSLTVECS KTSEIEPKNS PEDLGLSLTG DSCKLMLSTS EYSQSPKMES LSSHRIDEDG
ENTQIEDTEP MSPVLNSKFV PAENDSILMN PAQDGEVQLS QNDDKTKGDD TDTRDDISIL
ATGCKGREET VAEDVCIDLT CDSGSQAVPS PATRSEALSS VLDQEEAMEI KEHHPEEGSS
GSEVEEIPET PCESQGEELK EENMESVPLH LSLTETQSQG LCLQKEMPKK ECSEAMEVET
SVISIDSPQK LAILDQELEH KEQEAWEEAT SEDSSVVIVD VKEPSPRVDV SCEPLEGVEK
CSDSQSWEDI APEIEPCAEN RLDTKEEKSV EYEGDLKSGT AETEPVEQDS SQPSLPLVRA
DDPLRLDQEL QQPQTQEKTS NSLTEDSKMA NAKQLSSDAE AQKLGKPSAH ASQSFCESSS
ETPFHFTLPK EGDIIPPLTG ATPPLIGHLK LEPKRHSTPI GISNYPESTI ATSDVMSESM
VETHDPILGS GKGDSGAAPD VDDKLCLRMK LVSPETEASE ESLQFNLEKP ATGERKNGST
AVAESVASPQ KTMSVLSCIC EARQENEARS EDPPTTPIRG NLLHFPSSQG EEEKEKLEGD
HTIRQSQQPM KPISPVKDPV SPASQKMVIQ GPSSPQGEAM VTDVLEDQKE GRSTNKENPS
KALIERPSQN NIGIQTMECS LRVPETVSAA TQTIKNVCEQ GTSTVDQNFG KQDATVQTER
GSGEKPVSAP GDDTESLHSQ GEEEFDMPQP PHGHVLHRHM RTIREVRTLV TRVITDVYYV
DGTEVERKVT EETEEPIVEC QECETEVSPS QTGGSSGDLG DISSFSSKAS SLHRTSSGTS
LSAMHSSGSS GKGAGPLRGK TSGTEPADFA LPSSRGGPGK LSPRKGVSQT GTPVCEEDGD
AGLGIRQGGK APVTPRGRGR RGRPPSRTTG TRETAVPGPL GIEDISPNLS PDDKSFSRVV
PRVPDSTRRT DVGAGALRRS DSPEIPFQAA AGPSDGLDAS SPGNSFVGLR VVAKWSSNGY
FYSGKITRDV GAGKYKLLFD DGYECDVLGK DILLCDPIPL DTEVTALSED EYFSAGVVKG
HRKESGELYY SIEKEGQRKW YKRMAVILSL EQGNRLREQY GLGPYEAVTP LTKAADISLD
NLVEGKRKRR SNVSSPATPT ASSSSSTTPT RKITESPRAS MGVLSGKRKL ITSEEERSPA
KRGRKSATVK PGAVGAGEFV SPCESGDNTG EPSALEEQRG PLPLNKTLFL GYAFLLTMAT
TSDKLASRSK LPDGPTGSSE EEEEFLEIPP FNKQYTESQL RAGAGYILED FNEAQCNTAY
QCLLIADQHC RTRKYFLCLA SGIPCVSHVW VHDSCHANQL QNYRNYLLPA GYSLEEQRIL
DWQPRENPFQ NLKVLLVSDQ QQNFLELWSE ILMTGGAASV KQHHSSAHNK DIALGVFDVV
VTDPSCPASV LKCAEALQLP VVSQEWVIQC LIVGERIGFK QHPKYKHDYV SH*
speed 1.21 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