Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000003084
Querying Taster for transcript #2: ENST00000454343
MT speed 0 s - this script 4.531186 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CFTRpolymorphism_automatic0.000117024583707992simple_aaeaffectedV470Msingle base exchangers213950show file
CFTRpolymorphism_automatic0.00103357479355903simple_aaeaffectedV409Msingle base exchangers213950show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999882975416292 (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 CM034388)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:117199533G>AN/A show variant in all transcripts   IGV
HGNC symbol CFTR
Ensembl transcript ID ENST00000003084
Genbank transcript ID NM_000492
UniProt peptide P13569
alteration type single base exchange
alteration region CDS
DNA changes c.1408G>A
cDNA.1540G>A
g.93696G>A
AA changes V470M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS
470
frameshift no
known variant Reference ID: rs213950
databasehomozygous (A/A)heterozygousallele carriers
1000G9629911953
ExAC15242228317525

known disease mutation at this position, please check HGMD for details (HGMD ID CM034388)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)5.7321
0.9521
(flanking)3.2041
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased93696wt: 0.44 / mu: 0.50wt: TCCAGACTTCACTTCTAATGGTGATTATGGGAGAACTGGAG
mu: TCCAGACTTCACTTCTAATGATGATTATGGGAGAACTGGAG
 atgg|TGAT
Donor increased93694wt: 0.53 / mu: 0.74wt: TCTAATGGTGATTAT
mu: TCTAATGATGATTAT
 TAAT|ggtg
distance from splice site 16
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      470STGAGKTSLLMVIMGELEPSEGKI
mutated  all conserved    470STGAGKTSLLMMIMGELEPSEG
Ptroglodytes  all conserved  ENSPTRG00000019619  470STGAGKTSLLMMIMGELEPSEG
Mmulatta  all conserved  ENSMMUG00000011269  470STGAGKTSLLMMIMGELEPSEG
Fcatus  not conserved  ENSFCAG00000014955  450STGAGKXXXXXXXXXXXXXXXXX
Mmusculus  all conserved  ENSMUSG00000041301  470STGSGKTSLLMLILGELEASEG
Ggallus  all conserved  ENSGALG00000009324  472STGSGKTSLLMLIMGELEPS
Trubripes  all conserved  ENSTRUG00000017143  471STGAGKSSLLMMILGELVPTE
Drerio  not conserved  ENSDARG00000041107  471SMGSGKSSLLMTILGELVPSS
Dmelanogaster  not conserved  FBgn0038740  490LIQAVLGELNPDSGS
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000021796  471STGAGKTSLLMMIMGELEPSAGK
protein features
start (aa)end (aa)featuredetails 
351859TOPO_DOMCytoplasmic (Potential).lost
423646DOMAINABC transporter 1.lost
464471HELIXlost
478484STRANDmight get lost (downstream of altered splice site)
488491STRANDmight get lost (downstream of altered splice site)
499501STRANDmight get lost (downstream of altered splice site)
502507HELIXmight get lost (downstream of altered splice site)
514523HELIXmight get lost (downstream of altered splice site)
515515MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
524524LIPIDS-palmitoyl cysteine.might get lost (downstream of altered splice site)
527530HELIXmight get lost (downstream of altered splice site)
533535STRANDmight get lost (downstream of altered splice site)
536538HELIXmight get lost (downstream of altered splice site)
540542STRANDmight get lost (downstream of altered splice site)
550563HELIXmight get lost (downstream of altered splice site)
567573STRANDmight get lost (downstream of altered splice site)
574577TURNmight get lost (downstream of altered splice site)
580589HELIXmight get lost (downstream of altered splice site)
590594HELIXmight get lost (downstream of altered splice site)
595597TURNmight get lost (downstream of altered splice site)
598603STRANDmight get lost (downstream of altered splice site)
607612HELIXmight get lost (downstream of altered splice site)
614620STRANDmight get lost (downstream of altered splice site)
620620CONFLICTH -> N (in Ref. 1; AAA35680).might get lost (downstream of altered splice site)
623628STRANDmight get lost (downstream of altered splice site)
630634HELIXmight get lost (downstream of altered splice site)
640644HELIXmight get lost (downstream of altered splice site)
650652HELIXmight get lost (downstream of altered splice site)
655669HELIXmight get lost (downstream of altered splice site)
660660MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
686686MOD_RESPhosphoserine; by PKC.might get lost (downstream of altered splice site)
688688CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
700700MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
712712MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
717717MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
737737MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
753753MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
768768MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
790790MOD_RESPhosphoserine; by PKC.might get lost (downstream of altered splice site)
795795MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
813813MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
833833CONFLICTF -> L (in Ref. 1; AAA35680).might get lost (downstream of altered splice site)
8591155DOMAINABC transmembrane type-1 2.might get lost (downstream of altered splice site)
860880TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
881911TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
894894CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
900900CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
912932TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
933990TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
9911011TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
10121013TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
10141034TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
10351102TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11031123TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
11241128TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
11291149TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
11501480TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11761176MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12041207STRANDmight get lost (downstream of altered splice site)
12101223STRANDmight get lost (downstream of altered splice site)
12101443DOMAINABC transporter 2.might get lost (downstream of altered splice site)
12261234STRANDmight get lost (downstream of altered splice site)
12391245STRANDmight get lost (downstream of altered splice site)
12441251NP_BINDATP 2 (Potential).might get lost (downstream of altered splice site)
12501258HELIXmight get lost (downstream of altered splice site)
12611271STRANDmight get lost (downstream of altered splice site)
12791284HELIXmight get lost (downstream of altered splice site)
12861290STRANDmight get lost (downstream of altered splice site)
12971299STRANDmight get lost (downstream of altered splice site)
13001304HELIXmight get lost (downstream of altered splice site)
13121321HELIXmight get lost (downstream of altered splice site)
13251328HELIXmight get lost (downstream of altered splice site)
13341336HELIXmight get lost (downstream of altered splice site)
13411345TURNmight get lost (downstream of altered splice site)
13481361HELIXmight get lost (downstream of altered splice site)
13661371STRANDmight get lost (downstream of altered splice site)
13721375HELIXmight get lost (downstream of altered splice site)
13781389HELIXmight get lost (downstream of altered splice site)
13901394TURNmight get lost (downstream of altered splice site)
13951395LIPIDS-palmitoyl cysteine.might get lost (downstream of altered splice site)
13971400STRANDmight get lost (downstream of altered splice site)
14021404STRANDmight get lost (downstream of altered splice site)
14051407HELIXmight get lost (downstream of altered splice site)
14111417STRANDmight get lost (downstream of altered splice site)
14201426STRANDmight get lost (downstream of altered splice site)
14441444MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14561456MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14781480MOTIFPDZ-binding.might get lost (downstream of altered splice site)
14781480STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4443 / 4443
position (AA) of stopcodon in wt / mu AA sequence 1481 / 1481
position of stopcodon in wt / mu cDNA 4575 / 4575
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 133 / 133
chromosome 7
strand 1
last intron/exon boundary 4375
theoretical NMD boundary in CDS 4192
length of CDS 4443
coding sequence (CDS) position 1408
cDNA position
(for ins/del: last normal base / first normal base)
1540
gDNA position
(for ins/del: last normal base / first normal base)
93696
chromosomal position
(for ins/del: last normal base / first normal base)
117199533
original gDNA sequence snippet TCCAGACTTCACTTCTAATGGTGATTATGGGAGAACTGGAG
altered gDNA sequence snippet TCCAGACTTCACTTCTAATGATGATTATGGGAGAACTGGAG
original cDNA sequence snippet GCAAGACTTCACTTCTAATGGTGATTATGGGAGAACTGGAG
altered cDNA sequence snippet GCAAGACTTCACTTCTAATGATGATTATGGGAGAACTGGAG
wildtype AA sequence MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK
TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG
KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV
LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR
ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS
ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ
MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG
QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI
PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN
NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP
MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV
PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK
ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM
STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK
DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL
LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD
EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT
YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA
ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL *
mutated AA sequence MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK
TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMM IMGELEPSEG
KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV
LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR
ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS
ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ
MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG
QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI
PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN
NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP
MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV
PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK
ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM
STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK
DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL
LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD
EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT
YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA
ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL *
speed 1.22 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
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.998966425206441 (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 CM034388)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:117199533G>AN/A show variant in all transcripts   IGV
HGNC symbol CFTR
Ensembl transcript ID ENST00000454343
Genbank transcript ID N/A
UniProt peptide P13569
alteration type single base exchange
alteration region CDS
DNA changes c.1225G>A
cDNA.1357G>A
g.93696G>A
AA changes V409M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS
409
frameshift no
known variant Reference ID: rs213950
databasehomozygous (A/A)heterozygousallele carriers
1000G9629911953
ExAC15242228317525

known disease mutation at this position, please check HGMD for details (HGMD ID CM034388)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)5.7321
0.9521
(flanking)3.2041
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased93696wt: 0.44 / mu: 0.50wt: TCCAGACTTCACTTCTAATGGTGATTATGGGAGAACTGGAG
mu: TCCAGACTTCACTTCTAATGATGATTATGGGAGAACTGGAG
 atgg|TGAT
Donor increased93694wt: 0.53 / mu: 0.74wt: TCTAATGGTGATTAT
mu: TCTAATGATGATTAT
 TAAT|ggtg
distance from splice site 16
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      409TAFWEETSLLMVIMGELEPSEGKI
mutated  all conserved    409TAFWEETSLLMMIMGELEPSEGK
Ptroglodytes  not conserved  ENSPTRG00000019619  409TAFWEEGFGELFEKAKQNNNNRK
Mmulatta  not conserved  ENSMMUG00000011269  409TAFWEEGFGELFEKAKQNNSNRK
Fcatus  no alignment  ENSFCAG00000014955  n/a
Mmusculus  all conserved  ENSMUSG00000041301  450NLNIEKGEMLAITGSTGSGKTSLLMLILGELEASEG
Ggallus  all conserved  ENSGALG00000009324  472KTSLLMLIMGELEPSEGK
Trubripes  all conserved  ENSTRUG00000017143  437SLYLEKGKMLAVAGSTGAGKSSLLMMILGELVPTEGK
Drerio  not conserved  ENSDARG00000041107  447SMGSGKSSLLMTILGELVPSSGK
Dmelanogaster  not conserved  FBgn0038740  490QAVLGELNPDSGS
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000021796  471KTSLLMMIMGELEPSAGK
protein features
start (aa)end (aa)featuredetails 
351859TOPO_DOMCytoplasmic (Potential).lost
403411HELIXlost
423646DOMAINABC transporter 1.might get lost (downstream of altered splice site)
433436HELIXmight get lost (downstream of altered splice site)
440449STRANDmight get lost (downstream of altered splice site)
453457STRANDmight get lost (downstream of altered splice site)
458465NP_BINDATP 1 (Potential).might get lost (downstream of altered splice site)
464471HELIXmight get lost (downstream of altered splice site)
478484STRANDmight get lost (downstream of altered splice site)
488491STRANDmight get lost (downstream of altered splice site)
499501STRANDmight get lost (downstream of altered splice site)
502507HELIXmight get lost (downstream of altered splice site)
514523HELIXmight get lost (downstream of altered splice site)
515515MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
524524LIPIDS-palmitoyl cysteine.might get lost (downstream of altered splice site)
527530HELIXmight get lost (downstream of altered splice site)
533535STRANDmight get lost (downstream of altered splice site)
536538HELIXmight get lost (downstream of altered splice site)
540542STRANDmight get lost (downstream of altered splice site)
550563HELIXmight get lost (downstream of altered splice site)
567573STRANDmight get lost (downstream of altered splice site)
574577TURNmight get lost (downstream of altered splice site)
580589HELIXmight get lost (downstream of altered splice site)
590594HELIXmight get lost (downstream of altered splice site)
595597TURNmight get lost (downstream of altered splice site)
598603STRANDmight get lost (downstream of altered splice site)
607612HELIXmight get lost (downstream of altered splice site)
614620STRANDmight get lost (downstream of altered splice site)
620620CONFLICTH -> N (in Ref. 1; AAA35680).might get lost (downstream of altered splice site)
623628STRANDmight get lost (downstream of altered splice site)
630634HELIXmight get lost (downstream of altered splice site)
640644HELIXmight get lost (downstream of altered splice site)
650652HELIXmight get lost (downstream of altered splice site)
655669HELIXmight get lost (downstream of altered splice site)
660660MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
686686MOD_RESPhosphoserine; by PKC.might get lost (downstream of altered splice site)
688688CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
700700MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
712712MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
717717MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
737737MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
753753MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
768768MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
790790MOD_RESPhosphoserine; by PKC.might get lost (downstream of altered splice site)
795795MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
813813MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
833833CONFLICTF -> L (in Ref. 1; AAA35680).might get lost (downstream of altered splice site)
8591155DOMAINABC transmembrane type-1 2.might get lost (downstream of altered splice site)
860880TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
881911TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
894894CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
900900CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
912932TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
933990TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
9911011TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
10121013TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
10141034TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
10351102TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11031123TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
11241128TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
11291149TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
11501480TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11761176MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12041207STRANDmight get lost (downstream of altered splice site)
12101223STRANDmight get lost (downstream of altered splice site)
12101443DOMAINABC transporter 2.might get lost (downstream of altered splice site)
12261234STRANDmight get lost (downstream of altered splice site)
12391245STRANDmight get lost (downstream of altered splice site)
12441251NP_BINDATP 2 (Potential).might get lost (downstream of altered splice site)
12501258HELIXmight get lost (downstream of altered splice site)
12611271STRANDmight get lost (downstream of altered splice site)
12791284HELIXmight get lost (downstream of altered splice site)
12861290STRANDmight get lost (downstream of altered splice site)
12971299STRANDmight get lost (downstream of altered splice site)
13001304HELIXmight get lost (downstream of altered splice site)
13121321HELIXmight get lost (downstream of altered splice site)
13251328HELIXmight get lost (downstream of altered splice site)
13341336HELIXmight get lost (downstream of altered splice site)
13411345TURNmight get lost (downstream of altered splice site)
13481361HELIXmight get lost (downstream of altered splice site)
13661371STRANDmight get lost (downstream of altered splice site)
13721375HELIXmight get lost (downstream of altered splice site)
13781389HELIXmight get lost (downstream of altered splice site)
13901394TURNmight get lost (downstream of altered splice site)
13951395LIPIDS-palmitoyl cysteine.might get lost (downstream of altered splice site)
13971400STRANDmight get lost (downstream of altered splice site)
14021404STRANDmight get lost (downstream of altered splice site)
14051407HELIXmight get lost (downstream of altered splice site)
14111417STRANDmight get lost (downstream of altered splice site)
14201426STRANDmight get lost (downstream of altered splice site)
14441444MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14561456MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14781480STRANDmight get lost (downstream of altered splice site)
14781480MOTIFPDZ-binding.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4260 / 4260
position (AA) of stopcodon in wt / mu AA sequence 1420 / 1420
position of stopcodon in wt / mu cDNA 4392 / 4392
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 133 / 133
chromosome 7
strand 1
last intron/exon boundary 4192
theoretical NMD boundary in CDS 4009
length of CDS 4260
coding sequence (CDS) position 1225
cDNA position
(for ins/del: last normal base / first normal base)
1357
gDNA position
(for ins/del: last normal base / first normal base)
93696
chromosomal position
(for ins/del: last normal base / first normal base)
117199533
original gDNA sequence snippet TCCAGACTTCACTTCTAATGGTGATTATGGGAGAACTGGAG
altered gDNA sequence snippet TCCAGACTTCACTTCTAATGATGATTATGGGAGAACTGGAG
original cDNA sequence snippet AGGAGACTTCACTTCTAATGGTGATTATGGGAGAACTGGAG
altered cDNA sequence snippet AGGAGACTTCACTTCTAATGATGATTATGGGAGAACTGGAG
wildtype AA sequence MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMVI MGELEPSEGK
IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEDIS KFAEKDNIVL
GEGGITLSGG QRARISLARA VYKDADLYLL DSPFGYLDVL TEKEIFESCV CKLMANKTRI
LVTSKMEHLK KADKILILHE GSSYFYGTFS ELQNLQPDFS SKLMGCDSFD QFSAERRNSI
LTETLHRFSL EGDAPVSWTE TKKQSFKQTG EFGEKRKNSI LNPINSIRKF SIVQKTPLQM
NGIEEDSDEP LERRLSLVPD SEQGEAILPR ISVISTGPTL QARRRQSVLN LMTHSVNQGQ
NIHRKTTAST RKVSLAPQAN LTELDIYSRR LSQETGLEIS EEINEEDLKE CFFDDMESIP
AVTTWNTYLR YITVHKSLIF VLIWCLVIFL AEVAASLVVL WLLGNTPLQD KGNSTHSRNN
SYAVIITSTS SYYVFYIYVG VADTLLAMGF FRGLPLVHTL ITVSKILHHK MLHSVLQAPM
STLNTLKAGG ILNRFSKDIA ILDDLLPLTI FDFIQLLLIV IGAIAVVAVL QPYIFVATVP
VIVAFIMLRA YFLQTSQQLK QLESEGRSPI FTHLVTSLKG LWTLRAFGRQ PYFETLFHKA
LNLHTANWFL YLSTLRWFQM RIEMIFVIFF IAVTFISILT TGEGEGRVGI ILTLAMNIMS
TLQWAVNSSI DVDSLMRSVS RVFKFIDMPT EGKPTKSTKP YKNGQLSKVM IIENSHVKKD
DIWPSGGQMT VKDLTAKYTE GGNAILENIS FSISPGQRVG LLGRTGSGKS TLLSAFLRLL
NTEGEIQIDG VSWDSITLQQ WRKAFGVIPQ KVFIFSGTFR KNLDPYEQWS DQEIWKVADE
VGLRSVIEQF PGKLDFVLVD GGCVLSHGHK QLMCLARSVL SKAKILLLDE PSAHLDPVTY
QIIRRTLKQA FADCTVILCE HRIEAMLECQ QFLVIEENKV RQYDSIQKLL NERSLFRQAI
SPSDRVKLFP HRNSSKCKSK PQIAALKEET EEEVQDTRL*
mutated AA sequence MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMMI MGELEPSEGK
IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEDIS KFAEKDNIVL
GEGGITLSGG QRARISLARA VYKDADLYLL DSPFGYLDVL TEKEIFESCV CKLMANKTRI
LVTSKMEHLK KADKILILHE GSSYFYGTFS ELQNLQPDFS SKLMGCDSFD QFSAERRNSI
LTETLHRFSL EGDAPVSWTE TKKQSFKQTG EFGEKRKNSI LNPINSIRKF SIVQKTPLQM
NGIEEDSDEP LERRLSLVPD SEQGEAILPR ISVISTGPTL QARRRQSVLN LMTHSVNQGQ
NIHRKTTAST RKVSLAPQAN LTELDIYSRR LSQETGLEIS EEINEEDLKE CFFDDMESIP
AVTTWNTYLR YITVHKSLIF VLIWCLVIFL AEVAASLVVL WLLGNTPLQD KGNSTHSRNN
SYAVIITSTS SYYVFYIYVG VADTLLAMGF FRGLPLVHTL ITVSKILHHK MLHSVLQAPM
STLNTLKAGG ILNRFSKDIA ILDDLLPLTI FDFIQLLLIV IGAIAVVAVL QPYIFVATVP
VIVAFIMLRA YFLQTSQQLK QLESEGRSPI FTHLVTSLKG LWTLRAFGRQ PYFETLFHKA
LNLHTANWFL YLSTLRWFQM RIEMIFVIFF IAVTFISILT TGEGEGRVGI ILTLAMNIMS
TLQWAVNSSI DVDSLMRSVS RVFKFIDMPT EGKPTKSTKP YKNGQLSKVM IIENSHVKKD
DIWPSGGQMT VKDLTAKYTE GGNAILENIS FSISPGQRVG LLGRTGSGKS TLLSAFLRLL
NTEGEIQIDG VSWDSITLQQ WRKAFGVIPQ KVFIFSGTFR KNLDPYEQWS DQEIWKVADE
VGLRSVIEQF PGKLDFVLVD GGCVLSHGHK QLMCLARSVL SKAKILLLDE PSAHLDPVTY
QIIRRTLKQA FADCTVILCE HRIEAMLECQ QFLVIEENKV RQYDSIQKLL NERSLFRQAI
SPSDRVKLFP HRNSSKCKSK PQIAALKEET EEEVQDTRL*
speed 1.26 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
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Problems