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 ENST00000410041
Genbank transcript ID NM_001130985
UniProt peptide O75923
alteration type single base exchange
alteration region CDS
DNA changes c.3051G>T
cDNA.3192G>T
g.116579G>T
AA changes W1017C Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1017
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      1017CPLGWKWEDEEWSTDLNRAVDEQG
mutated  not conserved    1017CPLGWKWEDEECSTD
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 6297 / 6297
position (AA) of stopcodon in wt / mu AA sequence 2099 / 2099
position of stopcodon in wt / mu cDNA 6438 / 6438
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 6400
theoretical NMD boundary in CDS 6208
length of CDS 6297
coding sequence (CDS) position 3051
cDNA position
(for ins/del: last normal base / first normal base)		 3192
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 MLCCLLVRAS NLPSAKKDRR SDPVASLTFR GVKKRTKVIK NSVNPVWNEG FEWDLKGIPL
DQGSELHVVV KDHETMGRNR FLGEAKVPLR EVLATPSLSA SFNAPLLDTK KQPTGASLVL
QVSYTPLPGA VPLFPPPTPL EPSPTLPDLD VVAGGGQSRA ETWSLLSDST MDTRYSGKKW
PAPTDTGGEE DTEDQGLTGD EAEPFLDQSG GPGAPTTPRK LPSRPPPHYP GIKRKRSAPT
SRKLLSDKPQ DFQIRVQVIE GRQLPGVNIK PVVKVTAAGQ TKRTRIHKGN SPLFNETLFF
NLFDSPGELF DEPIFITVVD SRSLRTDALL GEFRMDVGTI YREPRHAYLR KWLLLSDPDD
FSAGARGYLK TSLCVLGPGD EAPLERKDPS EDKEDIESNL LRPTGVALRG AHFCLKVFRA
EDLPQMDDAV MDNVKQIFGF ESNKKNLVDP FVEVSFAGKM LCSKILEKTA NPQWNQNITL
PAMFPSMCEK MRIRIIDWDR LTHNDIVATT YLSMSKISAP GGEIEVDDYL GFLPTFGPCY
INLYGSPREF TGFPDPYTEL NTGKGEGVAY RGRLLLSLET KLVEHSEQKV EDLPADDILR
VEKYLRRRKY SLFAAFYSAT MLQDVDDAIQ FEVSIGNYGN KFDMTCLPLA STTQYSRAVF
DGCHYYYLPW GNVKPVVVLS SYWEDISHRI ETQNQLLGIA DRLEAGLEQV HLALKAQCST
EDVDSLVAQL TDELIAGCSQ PLGDIHETPS ATHLDQYLYQ LRTHHLSQIT EAALALKLGH
SELPAALEQA EDWLLRLRAL AEEPQNSLPD IVIWMLQGDK RVAYQRVPAH QVLFSRRGAN
YCGKNCGKLQ TIFLKYPMEK VPGARMPVQI RVKLWFGLSV DEKEFNQFAE GKLSVFAETY
ENETKLALVG NWGTTGLTYP KFSDVTGKIK LPKDSFRPSA GWTWAGDWFV CPEKTLLHDM
DAGHLSFVEE VFENQTRLPG GQWIYMSDNY TDVNGEKVLP KDDIECPLGW KWEDEEWSTD
LNRAVDEQGW EYSITIPPER KPKHWVPAEK MYYTHRRRRW VRLRRRDLSQ MEALKRHRQA
EAEGEGWEYA SLFGWKFHLE YRKTDAFRRR RWRRRMEPLE KTGPAAVFAL EGALGGVMDD
KSEDSMSVST LSFGVNRPTI SCIFDYGNRY HLRCYMYQAR DLAAMDKDSF SDPYAIVSFL
HQSQKTVVVK NTLNPTWDQT LIFYEIEIFG EPATVAEQPP SIVVELYDHD TYGADEFMGR
CICQPSLERM PRLAWFPLTR GSQPSGELLA SFELIQREKP AIHHIPGFEV QETSRILDES
EDTDLPYPPP QREANIYMVP QNIKPALQRT AIEILAWGLR NMKSYQLANI SSPSLVVECG
GQTVQSCVIR NLRKNPNFDI CTLFMEVMLP REELYCPPIT VKVIDNRQFG RRPVVGQCTI
RSLESFLCDP YSAESPSPQG GPDDVSLLSP GEDVLIDIDD KEPLIPIQEE 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 VVAGGGQSRA ETWSLLSDST MDTRYSGKKW
PAPTDTGGEE DTEDQGLTGD EAEPFLDQSG GPGAPTTPRK LPSRPPPHYP GIKRKRSAPT
SRKLLSDKPQ DFQIRVQVIE GRQLPGVNIK PVVKVTAAGQ TKRTRIHKGN SPLFNETLFF
NLFDSPGELF DEPIFITVVD SRSLRTDALL GEFRMDVGTI YREPRHAYLR KWLLLSDPDD
FSAGARGYLK TSLCVLGPGD EAPLERKDPS EDKEDIESNL LRPTGVALRG AHFCLKVFRA
EDLPQMDDAV MDNVKQIFGF ESNKKNLVDP FVEVSFAGKM LCSKILEKTA NPQWNQNITL
PAMFPSMCEK MRIRIIDWDR LTHNDIVATT YLSMSKISAP GGEIEVDDYL GFLPTFGPCY
INLYGSPREF TGFPDPYTEL NTGKGEGVAY RGRLLLSLET KLVEHSEQKV EDLPADDILR
VEKYLRRRKY SLFAAFYSAT MLQDVDDAIQ FEVSIGNYGN KFDMTCLPLA STTQYSRAVF
DGCHYYYLPW GNVKPVVVLS SYWEDISHRI ETQNQLLGIA DRLEAGLEQV HLALKAQCST
EDVDSLVAQL TDELIAGCSQ PLGDIHETPS ATHLDQYLYQ LRTHHLSQIT EAALALKLGH
SELPAALEQA EDWLLRLRAL AEEPQNSLPD IVIWMLQGDK RVAYQRVPAH QVLFSRRGAN
YCGKNCGKLQ TIFLKYPMEK VPGARMPVQI RVKLWFGLSV DEKEFNQFAE GKLSVFAETY
ENETKLALVG NWGTTGLTYP KFSDVTGKIK LPKDSFRPSA GWTWAGDWFV CPEKTLLHDM
DAGHLSFVEE VFENQTRLPG GQWIYMSDNY TDVNGEKVLP KDDIECPLGW KWEDEECSTD
LNRAVDEQGW EYSITIPPER KPKHWVPAEK MYYTHRRRRW VRLRRRDLSQ MEALKRHRQA
EAEGEGWEYA SLFGWKFHLE YRKTDAFRRR RWRRRMEPLE KTGPAAVFAL EGALGGVMDD
KSEDSMSVST LSFGVNRPTI SCIFDYGNRY HLRCYMYQAR DLAAMDKDSF SDPYAIVSFL
HQSQKTVVVK NTLNPTWDQT LIFYEIEIFG EPATVAEQPP SIVVELYDHD TYGADEFMGR
CICQPSLERM PRLAWFPLTR GSQPSGELLA SFELIQREKP AIHHIPGFEV QETSRILDES
EDTDLPYPPP QREANIYMVP QNIKPALQRT AIEILAWGLR NMKSYQLANI SSPSLVVECG
GQTVQSCVIR NLRKNPNFDI CTLFMEVMLP REELYCPPIT VKVIDNRQFG RRPVVGQCTI
RSLESFLCDP YSAESPSPQG GPDDVSLLSP GEDVLIDIDD KEPLIPIQEE 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 0.98 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