Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999998827140101 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980578)
  • known disease mutation: rs6668 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:71909727C>TN/A show variant in all transcripts   IGV
HGNC symbol DYSF
Ensembl transcript ID ENST00000410020
Genbank transcript ID NM_001130987
UniProt peptide O75923
alteration type single base exchange
alteration region CDS
DNA changes c.6241C>T
cDNA.6382C>T
g.228876C>T
AA changes R2081C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2081
frameshift no
known variant Reference ID: rs121908955
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC055

known disease mutation: rs6668 (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 CM980578)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980578)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980578)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.651
1.0791
(flanking)5.4291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased228883wt: 0.2192 / mu: 0.2321 (marginal change - not scored)wt: CATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCA
mu: CATCCTGTGGCGGTGTTTCCGGTGGGCCATCATCCTCTTCA		 tccg|GTGG
distance from splice site 68
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2081PYKTMKFILWRRFRWAIILFIILF
mutated  not conserved    2081PYKTMKFILWRCFRWAIILFIIL
Ptroglodytes  all identical  ENSPTRG00000012049  2035PYKTMKFILWRRFRWAI
Mmulatta  all identical  ENSMMUG00000007176  2012PYKTMKFILWRRFRWAIILFIIL
Fcatus  all identical  ENSFCAG00000004357  2012PYKTMKFILWRRFRCAIILFIIL
Mmusculus  all identical  ENSMUSG00000033788  2062PYKTMKFILWRRFRCAIILFIIL
Ggallus  all identical  ENSGALG00000016105  870PYKTLKYILWRRYKWLLILA
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000007370  1802PYKTFRFIVWRRFKWLILGLFIL
Dmelanogaster  no homologue    
Celegans  no alignment  T05E8.1  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6360 / 6360
position (AA) of stopcodon in wt / mu AA sequence 2120 / 2120
position of stopcodon in wt / mu cDNA 6501 / 6501
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 6463
theoretical NMD boundary in CDS 6271
length of CDS 6360
coding sequence (CDS) position 6241
cDNA position
(for ins/del: last normal base / first normal base)		 6382
gDNA position
(for ins/del: last normal base / first normal base)		 228876
chromosomal position
(for ins/del: last normal base / first normal base)		 71909727
original gDNA sequence snippet TGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATC
altered gDNA sequence snippet TGAAGTTCATCCTGTGGCGGTGTTTCCGGTGGGCCATCATC
original cDNA sequence snippet TGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATC
altered cDNA sequence snippet TGAAGTTCATCCTGTGGCGGTGTTTCCGGTGGGCCATCATC
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 KEPLIPIQLA DGLSSLAPTN
TASPPSSPHE EEFIDWWSKF FASIGEREKC GSYLEKDFDT LKVYDTQLEN VEAFEGLSDF
CNTFKLYRGK TQEETEDPSV IGEFKGLFKI YPLPEDPAIP MPPRQFHQLA AQGPQECLVR
IYIVRAFGLQ PKDPNGKCDP YIKISIGKKS VSDQDNYIPC TLEPVFGKMF ELTCTLPLEK
DLKITLYDYD LLSKDEKIGE TVVDLENRLL SKFGARCGLP QTYCVSGPNQ WRDQLRPSQL
LHLFCQQHRV KAPVYRTDRV MFQDKEYSIE EIEAGRIPNP HLGPVEERLA LHVLQQQGLV
PEHVESRPLY SPLQPDIEQG KLQMWVDLFP KALGRPGPPF NITPRRARRF FLRCIIWNTR
DVILDDLSLT GEKMSDIYVK GWMIGFEEHK QKTDVHYRSL GGEGNFNWRF IFPFDYLPAE
QVCTIAKKDA FWRLDKTESK IPARVVFQIW DNDKFSFDDF LGSLQLDLNR MPKPAKTAKK
CSLDQLDDAF HPEWFVSLFE QKTVKGWWPC VAEEGEKKIL AGKLEMTLEI VAESEHEERP
AGQGRDEPNM NPKLEDPRRP DTSFLWFTSP YKTMKFILWR RFRWAIILFI ILFILLLFLA
IFIYAFPNYA AMKLVKPFS*
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 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 KEPLIPIQLA DGLSSLAPTN
TASPPSSPHE EEFIDWWSKF FASIGEREKC GSYLEKDFDT LKVYDTQLEN VEAFEGLSDF
CNTFKLYRGK TQEETEDPSV IGEFKGLFKI YPLPEDPAIP MPPRQFHQLA AQGPQECLVR
IYIVRAFGLQ PKDPNGKCDP YIKISIGKKS VSDQDNYIPC TLEPVFGKMF ELTCTLPLEK
DLKITLYDYD LLSKDEKIGE TVVDLENRLL SKFGARCGLP QTYCVSGPNQ WRDQLRPSQL
LHLFCQQHRV KAPVYRTDRV MFQDKEYSIE EIEAGRIPNP HLGPVEERLA LHVLQQQGLV
PEHVESRPLY SPLQPDIEQG KLQMWVDLFP KALGRPGPPF NITPRRARRF FLRCIIWNTR
DVILDDLSLT GEKMSDIYVK GWMIGFEEHK QKTDVHYRSL GGEGNFNWRF IFPFDYLPAE
QVCTIAKKDA FWRLDKTESK IPARVVFQIW DNDKFSFDDF LGSLQLDLNR MPKPAKTAKK
CSLDQLDDAF HPEWFVSLFE QKTVKGWWPC VAEEGEKKIL AGKLEMTLEI VAESEHEERP
AGQGRDEPNM NPKLEDPRRP DTSFLWFTSP YKTMKFILWR CFRWAIILFI ILFILLLFLA
IFIYAFPNYA AMKLVKPFS*
speed 0.91 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