Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999946552 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM1612989)
  • known disease mutation at this position (HGMD CM161460)
  • known disease mutation at this position (HGMD CM994325)
  • known disease mutation: rs6674 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:71797430G>TN/A show variant in all transcripts   IGV
HGNC symbol DYSF
Ensembl transcript ID ENST00000409582
Genbank transcript ID NM_001130981
UniProt peptide O75923
alteration type single base exchange
alteration region CDS
DNA changes c.3048G>T
cDNA.3325G>T
g.116579G>T
AA changes W1016C Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1016
frameshift no
known variant Reference ID: rs28937581
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs6674 (pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM1612989)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1612989)
known disease mutation at this position, please check HGMD for details (HGMD ID CM161460)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1612989)
known disease mutation at this position, please check HGMD for details (HGMD ID CM161460)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994325)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1612989)
known disease mutation at this position, please check HGMD for details (HGMD ID CM161460)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994325)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994325)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.8971
5.5781
(flanking)1.9311
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 increased116572wt: 0.9834 / mu: 0.9981 (marginal change - not scored)wt: AGATGAGGAATGGTC
mu: AGATGAGGAATGTTC		 ATGA|ggaa
Donor increased116570wt: 0.54 / mu: 0.66wt: GAAGATGAGGAATGG
mu: GAAGATGAGGAATGT		 AGAT|gagg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1016CPLGWKWEDEEWSTDLNRAVDEQG
mutated  not conserved    1016CPLGWKWEDEECSTDL
Ptroglodytes  all identical  ENSPTRG00000012049  992PLGWKWEDEEWSTDLNRAVDEQ
Mmulatta  all identical  ENSMMUG00000007176  970CPLGWKWEDEEWSTDLNRAVDEQ
Fcatus  all identical  ENSFCAG00000004357  969CPLGWKWEDEEWSTDLNRAVDEQ
Mmusculus  all identical  ENSMUSG00000033788  1019CPLGWKWEDEEWSTDLNRAVDEQ
Ggallus  no alignment  ENSGALG00000016105  n/a
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000007370  762CPPGWVWEDIEWSEDLKRAVDDQ
Dmelanogaster  no homologue    
Celegans  all conserved  T05E8.1  795HVKGWQVGSWDQDKFRNN----GD
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
12046TOPO_DOMCytoplasmic (Potential).lost
10381097COMPBIASArg-rich.might get lost (downstream of altered splice site)
11391244DOMAINC2 4.might get lost (downstream of altered splice site)
15651663DOMAINC2 5.might get lost (downstream of altered splice site)
20472067TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
20682080TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6357 / 6357
position (AA) of stopcodon in wt / mu AA sequence 2119 / 2119
position of stopcodon in wt / mu cDNA 6634 / 6634
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 278 / 278
chromosome 2
strand 1
last intron/exon boundary 6596
theoretical NMD boundary in CDS 6268
length of CDS 6357
coding sequence (CDS) position 3048
cDNA position
(for ins/del: last normal base / first normal base)		 3325
gDNA position
(for ins/del: last normal base / first normal base)		 116579
chromosomal position
(for ins/del: last normal base / first normal base)		 71797430
original gDNA sequence snippet AAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGC
altered gDNA sequence snippet AAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGC
original cDNA sequence snippet AAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGC
altered cDNA sequence snippet AAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGC
wildtype AA sequence MLRVFILYAE NVHTPDTDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF EWDLKGIPLD
QGSELHVVVK DHETMGRNRF LGEAKVPLRE VLATPSLSAS FNAPLLDTKK QPTGASLVLQ
VSYTPLPGAV PLFPPPTPLE PSPTLPDLDV VAGGGQSRAE TWSLLSDSTM DTRYSGKKWP
APTDTGGEED TEDQGLTGDE AEPFLDQSGG PGAPTTPRKL PSRPPPHYPG IKRKRSAPTS
RKLLSDKPQD FQIRVQVIEG RQLPGVNIKP VVKVTAAGQT KRTRIHKGNS PLFNETLFFN
LFDSPGELFD EPIFITVVDS RSLRTDALLG EFRMDVGTIY REPRHAYLRK WLLLSDPDDF
SAGARGYLKT SLCVLGPGDE APLERKDPSE DKEDIESNLL RPTGVALRGA HFCLKVFRAE
DLPQMDDAVM DNVKQIFGFE SNKKNLVDPF VEVSFAGKML CSKILEKTAN PQWNQNITLP
AMFPSMCEKM RIRIIDWDRL THNDIVATTY LSMSKISAPG GEIEVDDYLG FLPTFGPCYI
NLYGSPREFT GFPDPYTELN TGKGEGVAYR GRLLLSLETK LVEHSEQKVE DLPADDILRV
EKYLRRRKYS LFAAFYSATM LQDVDDAIQF EVSIGNYGNK FDMTCLPLAS TTQYSRAVFD
GCHYYYLPWG NVKPVVVLSS YWEDISHRIE TQNQLLGIAD RLEAGLEQVH LALKAQCSTE
DVDSLVAQLT DELIAGCSQP LGDIHETPSA THLDQYLYQL RTHHLSQITE AALALKLGHS
ELPAALEQAE DWLLRLRALA EEPQNSLPDI VIWMLQGDKR VAYQRVPAHQ VLFSRRGANY
CGKNCGKLQT IFLKYPMEKV PGARMPVQIR VKLWFGLSVD EKEFNQFAEG KLSVFAETYE
NETKLALVGN WGTTGLTYPK FSDVTGKIKL PKDSFRPSAG WTWAGDWFVC PEKTLLHDMD
AGHLSFVEEV FENQTRLPGG QWIYMSDNYT DVNGEKVLPK DDIECPLGWK WEDEEWSTDL
NRAVDEQGWE YSITIPPERK PKHWVPAEKM YYTHRRRRWV RLRRRDLSQM EALKRHRQAE
AEGEGWEYAS LFGWKFHLEY RKTDAFRRRR WRRRMEPLEK TGPAAVFALE GALGGVMDDK
SEDSMSVSTL SFGVNRPTIS CIFDYGNRYH LRCYMYQARD LAAMDKDSFS DPYAIVSFLH
QSQKTVVVKN TLNPTWDQTL IFYEIEIFGE PATVAEQPPS IVVELYDHDT YGADEFMGRC
ICQPSLERMP RLAWFPLTRG SQPSGELLAS FELIQREKPA IHHIPGFEVQ ETSRILDESE
DTDLPYPPPQ REANIYMVPQ NIKPALQRTA IEILAWGLRN MKSYQLANIS SPSLVVECGG
QTVQSCVIRN LRKNPNFDIC TLFMEVMLPR EELYCPPITV KVIDNRQFGR RPVVGQCTIR
SLESFLCDPY SAESPSPQGG PDDVSLLSPG EDVLIDIDDK EPLIPIQLAD GLSSLAPTNT
ASPPSSPHEE EFIDWWSKFF ASIGEREKCG SYLEKDFDTL KVYDTQLENV EAFEGLSDFC
NTFKLYRGKT QEETEDPSVI GEFKGLFKIY PLPEDPAIPM PPRQFHQLAA QGPQECLVRI
YIVRAFGLQP KDPNGKCDPY IKISIGKKSV SDQDNYIPCT LEPVFGKMFE LTCTLPLEKD
LKITLYDYDL LSKDEKIGET VVDLENRLLS KFGARCGLPQ TYCVSGPNQW RDQLRPSQLL
HLFCQQHRVK APVYRTDRVM FQDKEYSIEE IEAGRIPNPH LGPVEERLAL HVLQQQGLVP
EHVESRPLYS PLQPDIEQGK LQMWVDLFPK ALGRPGPPFN ITPRRARRFF LRCIIWNTRD
VILDDLSLTG EKMSDIYVKG WMIGFEEHKQ KTDVHYRSLG GEGNFNWRFI FPFDYLPAEQ
VCTIAKKDAF WRLDKTESKI PARVVFQIWD NDKFSFDDFL GSLQLDLNRM PKPAKTAKKC
SLDQLDDAFH PEWFVSLFEQ KTVKGWWPCV AEEGEKKILA GKLEMTLEIV AESEHEERPA
GQGRDEPNMN PKLEDPRRPD TSFLWFTSPY KTMKFILWRR FRWAIILFII LFILLLFLAI
FIYAFPNYAA MKLVKPFS*
mutated AA sequence MLRVFILYAE NVHTPDTDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF EWDLKGIPLD
QGSELHVVVK DHETMGRNRF LGEAKVPLRE VLATPSLSAS FNAPLLDTKK QPTGASLVLQ
VSYTPLPGAV PLFPPPTPLE PSPTLPDLDV VAGGGQSRAE TWSLLSDSTM DTRYSGKKWP
APTDTGGEED TEDQGLTGDE AEPFLDQSGG PGAPTTPRKL PSRPPPHYPG IKRKRSAPTS
RKLLSDKPQD FQIRVQVIEG RQLPGVNIKP VVKVTAAGQT KRTRIHKGNS PLFNETLFFN
LFDSPGELFD EPIFITVVDS RSLRTDALLG EFRMDVGTIY REPRHAYLRK WLLLSDPDDF
SAGARGYLKT SLCVLGPGDE APLERKDPSE DKEDIESNLL RPTGVALRGA HFCLKVFRAE
DLPQMDDAVM DNVKQIFGFE SNKKNLVDPF VEVSFAGKML CSKILEKTAN PQWNQNITLP
AMFPSMCEKM RIRIIDWDRL THNDIVATTY LSMSKISAPG GEIEVDDYLG FLPTFGPCYI
NLYGSPREFT GFPDPYTELN TGKGEGVAYR GRLLLSLETK LVEHSEQKVE DLPADDILRV
EKYLRRRKYS LFAAFYSATM LQDVDDAIQF EVSIGNYGNK FDMTCLPLAS TTQYSRAVFD
GCHYYYLPWG NVKPVVVLSS YWEDISHRIE TQNQLLGIAD RLEAGLEQVH LALKAQCSTE
DVDSLVAQLT DELIAGCSQP LGDIHETPSA THLDQYLYQL RTHHLSQITE AALALKLGHS
ELPAALEQAE DWLLRLRALA EEPQNSLPDI VIWMLQGDKR VAYQRVPAHQ VLFSRRGANY
CGKNCGKLQT IFLKYPMEKV PGARMPVQIR VKLWFGLSVD EKEFNQFAEG KLSVFAETYE
NETKLALVGN WGTTGLTYPK FSDVTGKIKL PKDSFRPSAG WTWAGDWFVC PEKTLLHDMD
AGHLSFVEEV FENQTRLPGG QWIYMSDNYT DVNGEKVLPK DDIECPLGWK WEDEECSTDL
NRAVDEQGWE YSITIPPERK PKHWVPAEKM YYTHRRRRWV RLRRRDLSQM EALKRHRQAE
AEGEGWEYAS LFGWKFHLEY RKTDAFRRRR WRRRMEPLEK TGPAAVFALE GALGGVMDDK
SEDSMSVSTL SFGVNRPTIS CIFDYGNRYH LRCYMYQARD LAAMDKDSFS DPYAIVSFLH
QSQKTVVVKN TLNPTWDQTL IFYEIEIFGE PATVAEQPPS IVVELYDHDT YGADEFMGRC
ICQPSLERMP RLAWFPLTRG SQPSGELLAS FELIQREKPA IHHIPGFEVQ ETSRILDESE
DTDLPYPPPQ REANIYMVPQ NIKPALQRTA IEILAWGLRN MKSYQLANIS SPSLVVECGG
QTVQSCVIRN LRKNPNFDIC TLFMEVMLPR EELYCPPITV KVIDNRQFGR RPVVGQCTIR
SLESFLCDPY SAESPSPQGG PDDVSLLSPG EDVLIDIDDK EPLIPIQLAD GLSSLAPTNT
ASPPSSPHEE EFIDWWSKFF ASIGEREKCG SYLEKDFDTL KVYDTQLENV EAFEGLSDFC
NTFKLYRGKT QEETEDPSVI GEFKGLFKIY PLPEDPAIPM PPRQFHQLAA QGPQECLVRI
YIVRAFGLQP KDPNGKCDPY IKISIGKKSV SDQDNYIPCT LEPVFGKMFE LTCTLPLEKD
LKITLYDYDL LSKDEKIGET VVDLENRLLS KFGARCGLPQ TYCVSGPNQW RDQLRPSQLL
HLFCQQHRVK APVYRTDRVM FQDKEYSIEE IEAGRIPNPH LGPVEERLAL HVLQQQGLVP
EHVESRPLYS PLQPDIEQGK LQMWVDLFPK ALGRPGPPFN ITPRRARRFF LRCIIWNTRD
VILDDLSLTG EKMSDIYVKG WMIGFEEHKQ KTDVHYRSLG GEGNFNWRFI FPFDYLPAEQ
VCTIAKKDAF WRLDKTESKI PARVVFQIWD NDKFSFDDFL GSLQLDLNRM PKPAKTAKKC
SLDQLDDAFH PEWFVSLFEQ KTVKGWWPCV AEEGEKKILA GKLEMTLEIV AESEHEERPA
GQGRDEPNMN PKLEDPRRPD TSFLWFTSPY KTMKFILWRR FRWAIILFII LFILLLFLAI
FIYAFPNYAA MKLVKPFS*
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