Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99998257639319 (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 ENST00000409744
Genbank transcript ID NM_001130977
UniProt peptide O75923
alteration type single base exchange
alteration region CDS
DNA changes c.3098G>A
cDNA.3239G>A
g.116983G>A
AA changes R1033H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1033
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      1033YTHRRRRWVRLRRRDLSQMEALKR
mutated  not conserved    1033YTHRRRRWVRLHRRDLSQMEALK
Ptroglodytes  all identical  ENSPTRG00000012049  1039YTHRRRRWVRLRRR
Mmulatta  all identical  ENSMMUG00000007176  1017YTHRRRRWVRLRRRDLSQMEALK
Fcatus  all identical  ENSFCAG00000004357  1016YTHRRRRWVRLRRR
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.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 6267 / 6267
position (AA) of stopcodon in wt / mu AA sequence 2089 / 2089
position of stopcodon in wt / mu cDNA 6408 / 6408
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 142 / 142
chromosome 2
strand 1
last intron/exon boundary 6370
theoretical NMD boundary in CDS 6178
length of CDS 6267
coding sequence (CDS) position 3098
cDNA position
(for ins/del: last normal base / first normal base)		 3239
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 MLCCLLVRAS NLPSAKKDRR SDPVASLTFR GVKKRTKVIK NSVNPVWNEG FEWDLKGIPL
DQGSELHVVV KDHETMGRNR FLGEAKVPLR EVLATPSLSA SFNAPLLDTK KQPTGASLVL
QVSYTPLPGA VPLFPPPTPL EPSPTLPDLD VVADTGGEED 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 MLCCLLVRAS NLPSAKKDRR SDPVASLTFR GVKKRTKVIK NSVNPVWNEG FEWDLKGIPL
DQGSELHVVV KDHETMGRNR FLGEAKVPLR EVLATPSLSA SFNAPLLDTK KQPTGASLVL
QVSYTPLPGA VPLFPPPTPL EPSPTLPDLD VVADTGGEED 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 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 1.03 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