Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999930140464966 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM994326)
  • known disease mutation: rs6675 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:71797834G>AN/A show variant in all transcripts   IGV
HGNC symbol DYSF
Ensembl transcript ID ENST00000409762
Genbank transcript ID NM_001130980
UniProt peptide O75923
alteration type single base exchange
alteration region CDS
DNA changes c.3188G>A
cDNA.3465G>A
g.116983G>A
AA changes R1063H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1063
frameshift no
known variant Reference ID: rs121908958
databasehomozygous (A/A)heterozygousallele carriers
1000G022
ExAC033

known disease mutation: rs6675 (pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2B|Myopathy, distal, with anterior tibial onset|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 CM994326)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994326)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994326)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4811
3.7651
(flanking)0.2530.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased116983wt: 0.42 / mu: 0.95wt: CCTGCGCAGGAGGGA
mu: CCTGCACAGGAGGGA		 TGCG|cagg
Donor increased116988wt: 0.69 / mu: 0.77wt: GCAGGAGGGATCTCA
mu: ACAGGAGGGATCTCA		 AGGA|ggga
Donor increased116985wt: 0.73 / mu: 0.83wt: TGCGCAGGAGGGATC
mu: TGCACAGGAGGGATC		 CGCA|ggag
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1063YTHRRRRWVRLRRRDLSQMEALKR
mutated  not conserved    1063YTHRRRRWVRLHRRDLSQMEALK
Ptroglodytes  all identical  ENSPTRG00000012049  1039YTHRRRRWVRLRRR
Mmulatta  all identical  ENSMMUG00000007176  1017YTHRRRRWVRLRRRDLSQMEALK
Fcatus  all identical  ENSFCAG00000004357  1016YTHRRRRWVRLRRRDLSQMEALK
Mmusculus  all identical  ENSMUSG00000033788  1066YTHRRRRWVRLRRRDLSQMEALK
Ggallus  no alignment  ENSGALG00000016105  n/a
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000007370  809HTNRRRRWIRLRRRDMQKMEALR
Dmelanogaster  no homologue    
Celegans  all identical  T05E8.1  839HNFRKRCIERPRKHE
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
12046TOPO_DOMCytoplasmic (Potential).lost
10381097COMPBIASArg-rich.lost
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 6294 / 6294
position (AA) of stopcodon in wt / mu AA sequence 2098 / 2098
position of stopcodon in wt / mu cDNA 6571 / 6571
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 6533
theoretical NMD boundary in CDS 6205
length of CDS 6294
coding sequence (CDS) position 3188
cDNA position
(for ins/del: last normal base / first normal base)		 3465
gDNA position
(for ins/del: last normal base / first normal base)		 116983
chromosomal position
(for ins/del: last normal base / first normal base)		 71797834
original gDNA sequence snippet GCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAA
altered gDNA sequence snippet GCGGCGCTGGGTGCGCCTGCACAGGAGGGATCTCAGCCAAA
original cDNA sequence snippet GCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAA
altered cDNA sequence snippet GCGGCGCTGGGTGCGCCTGCACAGGAGGGATCTCAGCCAAA
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 EPLIPIQEEE FIDWWSKFFA
SIGEREKCGS YLEKDFDTLK VYDTQLENVE AFEGLSDFCN TFKLYRGKTQ EETEDPSVIG
EFKGLFKIYP LPEDPAIPMP PRQFHQLAAQ GPQECLVRIY IVRAFGLQPK DPNGKCDPYI
KISIGKKSVS DQDNYIPCTL EPVFGKMFEL TCTLPLEKDL KITLYDYDLL SKDEKIGETV
VDLENRLLSK FGARCGLPQT YCVSGPNQWR DQLRPSQLLH LFCQQHRVKA PVYRTDRVMF
QDKEYSIEEI EAGRIPNPHL GPVEERLALH VLQQQGLVPE HVESRPLYSP LQPDIEQGKL
QMWVDLFPKA LGRPGPPFNI TPRRARRFFL RCIIWNTRDV ILDDLSLTGE KMSDIYVKGW
MIGFEEHKQK TDVHYRSLGG EGNFNWRFIF PFDYLPAEQV CTIAKKDAFW RLDKTESKIP
ARVVFQIWDN DKFSFDDFLG SLQLDLNRMP KPAKTAKKCS LDQLDDAFHP EWFVSLFEQK
TVKGWWPCVA EEGEKKILAG KLEMTLEIVA ESEHEERPAG QGRDEPNMNP KLEDPRRPDT
SFLWFTSPYK TMKFILWRRF RWAIILFIIL FILLLFLAIF IYAFPNYAAM KLVKPFS*
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 WEDEEWSTDL
NRAVDEQGWE YSITIPPERK PKHWVPAEKM YYTHRRRRWV RLHRRDLSQM 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 EPLIPIQEEE FIDWWSKFFA
SIGEREKCGS YLEKDFDTLK VYDTQLENVE AFEGLSDFCN TFKLYRGKTQ EETEDPSVIG
EFKGLFKIYP LPEDPAIPMP PRQFHQLAAQ GPQECLVRIY IVRAFGLQPK DPNGKCDPYI
KISIGKKSVS DQDNYIPCTL EPVFGKMFEL TCTLPLEKDL KITLYDYDLL SKDEKIGETV
VDLENRLLSK FGARCGLPQT YCVSGPNQWR DQLRPSQLLH LFCQQHRVKA PVYRTDRVMF
QDKEYSIEEI EAGRIPNPHL GPVEERLALH VLQQQGLVPE HVESRPLYSP LQPDIEQGKL
QMWVDLFPKA LGRPGPPFNI TPRRARRFFL RCIIWNTRDV ILDDLSLTGE KMSDIYVKGW
MIGFEEHKQK TDVHYRSLGG EGNFNWRFIF PFDYLPAEQV CTIAKKDAFW RLDKTESKIP
ARVVFQIWDN DKFSFDDFLG SLQLDLNRMP KPAKTAKKCS LDQLDDAFHP EWFVSLFEQK
TVKGWWPCVA EEGEKKILAG KLEMTLEIVA ESEHEERPAG QGRDEPNMNP KLEDPRRPDT
SFLWFTSPYK TMKFILWRRF RWAIILFIIL FILLLFLAIF IYAFPNYAAM KLVKPFS*
speed 0.36 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