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 ENST00000429174
Genbank transcript ID NM_001130978
UniProt peptide O75923
alteration type single base exchange
alteration region CDS
DNA changes c.2997G>T
cDNA.3274G>T
g.116579G>T
AA changes W999C Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 999
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      999CPLGWKWEDEEWSTDLNRAVDEQG
mutated  not conserved    999CPLGWKWEDEECSTDLNRAVDEQ
Ptroglodytes  all identical  ENSPTRG00000012049  992PLGWKWEDEEWSTDLNRAVDEQ
Mmulatta  all identical  ENSMMUG00000007176  970CPLGWKWEDEEWSTDLNRAVDEQ
Fcatus  all identical  ENSFCAG00000004357  969PLGWKWEDEEWSTDLNRAVDEQ
Mmusculus  all identical  ENSMUSG00000033788  1019CPLGWKWEDEEWSTDLNRA
Ggallus  no alignment  ENSGALG00000016105  n/a
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000007370  762CPPGWVWEDIEWSEDLKRAVDDQ
Dmelanogaster  no homologue    
Celegans  all conserved  T05E8.1  795HVKGWQVGSWDQDKFRNN----GDEK
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 6306 / 6306
position (AA) of stopcodon in wt / mu AA sequence 2102 / 2102
position of stopcodon in wt / mu cDNA 6583 / 6583
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 6545
theoretical NMD boundary in CDS 6217
length of CDS 6306
coding sequence (CDS) position 2997
cDNA position
(for ins/del: last normal base / first normal base)		 3274
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 VADTGGEEDT EDQGLTGDEA EPFLDQSGGP
GAPTTPRKLP SRPPPHYPGI KRKRSAPTSR KLLSDKPQDF QIRVQVIEGR QLPGVNIKPV
VKVTAAGQTK RTRIHKGNSP LFNETLFFNL FDSPGELFDE PIFITVVDSR SLRTDALLGE
FRMDVGTIYR EPRHAYLRKW LLLSDPDDFS AGARGYLKTS LCVLGPGDEA PLERKDPSED
KEDIESNLLR PTGVALRGAH FCLKVFRAED LPQMDDAVMD NVKQIFGFES NKKNLVDPFV
EVSFAGKMLC SKILEKTANP QWNQNITLPA MFPSMCEKMR IRIIDWDRLT HNDIVATTYL
SMSKISAPGG EIEEEPAGAV KPSKASDLDD YLGFLPTFGP CYINLYGSPR EFTGFPDPYT
ELNTGKGEGV AYRGRLLLSL ETKLVEHSEQ KVEDLPADDI LRVEKYLRRR KYSLFAAFYS
ATMLQDVDDA IQFEVSIGNY GNKFDMTCLP LASTTQYSRA VFDGCHYYYL PWGNVKPVVV
LSSYWEDISH RIETQNQLLG IADRLEAGLE QVHLALKAQC STEDVDSLVA QLTDELIAGC
SQPLGDIHET PSATHLDQYL YQLRTHHLSQ ITEAALALKL GHSELPAALE QAEDWLLRLR
ALAEEPQNSL PDIVIWMLQG DKRVAYQRVP AHQVLFSRRG ANYCGKNCGK LQTIFLKYPM
EKVPGARMPV QIRVKLWFGL SVDEKEFNQF AEGKLSVFAE TYENETKLAL VGNWGTTGLT
YPKFSDVTGK IKLPKDSFRP SAGWTWAGDW FVCPEKTLLH DMDAGHLSFV EEVFENQTRL
PGGQWIYMSD NYTDVNGEKV LPKDDIECPL GWKWEDEEWS TDLNRAVDEQ GWEYSITIPP
ERKPKHWVPA EKMYYTHRRR RWVRLRRRDL SQMEALKRHR QAEAEGEGWE YASLFGWKFH
LEYRKTDAFR RRRWRRRMEP LEKTGPAAVF ALEGALGGVM DDKSEDSMSV STLSFGVNRP
TISCIFDYGN RYHLRCYMYQ ARDLAAMDKD SFSDPYAIVS FLHQSQKTVV VKNTLNPTWD
QTLIFYEIEI FGEPATVAEQ PPSIVVELYD HDTYGADEFM GRCICQPSLE RMPRLAWFPL
TRGSQPSGEL LASFELIQRE KPAIHHIPGF EVQETSRILD ESEDTDLPYP PPQREANIYM
VPQNIKPALQ RTAIEILAWG LRNMKSYQLA NISSPSLVVE CGGQTVQSCV IRNLRKNPNF
DICTLFMEVM LPREELYCPP ITVKVIDNRQ FGRRPVVGQC TIRSLESFLC DPYSAESPSP
QGGPDDVSLL SPGEDVLIDI DDKEPLIPIQ LADGLSSLAP TNTASPPSSP HEEEFIDWWS
KFFASIGERE KCGSYLEKDF DTLKVYDTQL ENVEAFEGLS DFCNTFKLYR GKTQEETEDP
SVIGEFKGLF KIYPLPEDPA IPMPPRQFHQ LAAQGPQECL VRIYIVRAFG LQPKDPNGKC
DPYIKISIGK KSVSDQDNYI PCTLEPVFGK MFELTCTLPL EKDLKITLYD YDLLSKDEKI
GETVVDLENR LLSKFGARCG LPQTYCVSGP NQWRDQLRPS QLLHLFCQQH RVKAPVYRTD
RVMFQDKEYS IEEIEAGRIP NPHLGPVEER LALHVLQQQG LVPEHVESRP LYSPLQPDIE
QGKLQMWVDL FPKALGRPGP PFNITPRRAR RFFLRCIIWN TRDVILDDLS LTGEKMSDIY
VKGWMIGFEE HKQKTDVHYR SLGGEGNFNW RFIFPFDYLP AEQVCTIAKK DAFWRLDKTE
SKIPARVVFQ IWDNDKFSFD DFLGSLQLDL NRMPKPAKTA KKCSLDQLDD AFHPEWFVSL
FEQKTVKGWW PCVAEEGEKK ILAGKLEMTL EIVAESEHEE RPAGQGRDEP NMNPKLEDPR
RPDTSFLWFT SPYKTMKFIL WRRFRWAIIL FIILFILLLF LAIFIYAFPN YAAMKLVKPF
S*
mutated AA sequence MLRVFILYAE NVHTPDTDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF EWDLKGIPLD
QGSELHVVVK DHETMGRNRF LGEAKVPLRE VLATPSLSAS FNAPLLDTKK QPTGASLVLQ
VSYTPLPGAV PLFPPPTPLE PSPTLPDLDV VADTGGEEDT EDQGLTGDEA EPFLDQSGGP
GAPTTPRKLP SRPPPHYPGI KRKRSAPTSR KLLSDKPQDF QIRVQVIEGR QLPGVNIKPV
VKVTAAGQTK RTRIHKGNSP LFNETLFFNL FDSPGELFDE PIFITVVDSR SLRTDALLGE
FRMDVGTIYR EPRHAYLRKW LLLSDPDDFS AGARGYLKTS LCVLGPGDEA PLERKDPSED
KEDIESNLLR PTGVALRGAH FCLKVFRAED LPQMDDAVMD NVKQIFGFES NKKNLVDPFV
EVSFAGKMLC SKILEKTANP QWNQNITLPA MFPSMCEKMR IRIIDWDRLT HNDIVATTYL
SMSKISAPGG EIEEEPAGAV KPSKASDLDD YLGFLPTFGP CYINLYGSPR EFTGFPDPYT
ELNTGKGEGV AYRGRLLLSL ETKLVEHSEQ KVEDLPADDI LRVEKYLRRR KYSLFAAFYS
ATMLQDVDDA IQFEVSIGNY GNKFDMTCLP LASTTQYSRA VFDGCHYYYL PWGNVKPVVV
LSSYWEDISH RIETQNQLLG IADRLEAGLE QVHLALKAQC STEDVDSLVA QLTDELIAGC
SQPLGDIHET PSATHLDQYL YQLRTHHLSQ ITEAALALKL GHSELPAALE QAEDWLLRLR
ALAEEPQNSL PDIVIWMLQG DKRVAYQRVP AHQVLFSRRG ANYCGKNCGK LQTIFLKYPM
EKVPGARMPV QIRVKLWFGL SVDEKEFNQF AEGKLSVFAE TYENETKLAL VGNWGTTGLT
YPKFSDVTGK IKLPKDSFRP SAGWTWAGDW FVCPEKTLLH DMDAGHLSFV EEVFENQTRL
PGGQWIYMSD NYTDVNGEKV LPKDDIECPL GWKWEDEECS TDLNRAVDEQ GWEYSITIPP
ERKPKHWVPA EKMYYTHRRR RWVRLRRRDL SQMEALKRHR QAEAEGEGWE YASLFGWKFH
LEYRKTDAFR RRRWRRRMEP LEKTGPAAVF ALEGALGGVM DDKSEDSMSV STLSFGVNRP
TISCIFDYGN RYHLRCYMYQ ARDLAAMDKD SFSDPYAIVS FLHQSQKTVV VKNTLNPTWD
QTLIFYEIEI FGEPATVAEQ PPSIVVELYD HDTYGADEFM GRCICQPSLE RMPRLAWFPL
TRGSQPSGEL LASFELIQRE KPAIHHIPGF EVQETSRILD ESEDTDLPYP PPQREANIYM
VPQNIKPALQ RTAIEILAWG LRNMKSYQLA NISSPSLVVE CGGQTVQSCV IRNLRKNPNF
DICTLFMEVM LPREELYCPP ITVKVIDNRQ FGRRPVVGQC TIRSLESFLC DPYSAESPSP
QGGPDDVSLL SPGEDVLIDI DDKEPLIPIQ LADGLSSLAP TNTASPPSSP HEEEFIDWWS
KFFASIGERE KCGSYLEKDF DTLKVYDTQL ENVEAFEGLS DFCNTFKLYR GKTQEETEDP
SVIGEFKGLF KIYPLPEDPA IPMPPRQFHQ LAAQGPQECL VRIYIVRAFG LQPKDPNGKC
DPYIKISIGK KSVSDQDNYI PCTLEPVFGK MFELTCTLPL EKDLKITLYD YDLLSKDEKI
GETVVDLENR LLSKFGARCG LPQTYCVSGP NQWRDQLRPS QLLHLFCQQH RVKAPVYRTD
RVMFQDKEYS IEEIEAGRIP NPHLGPVEER LALHVLQQQG LVPEHVESRP LYSPLQPDIE
QGKLQMWVDL FPKALGRPGP PFNITPRRAR RFFLRCIIWN TRDVILDDLS LTGEKMSDIY
VKGWMIGFEE HKQKTDVHYR SLGGEGNFNW RFIFPFDYLP AEQVCTIAKK DAFWRLDKTE
SKIPARVVFQ IWDNDKFSFD DFLGSLQLDL NRMPKPAKTA KKCSLDQLDD AFHPEWFVSL
FEQKTVKGWW PCVAEEGEKK ILAGKLEMTL EIVAESEHEE RPAGQGRDEP NMNPKLEDPR
RPDTSFLWFT SPYKTMKFIL WRRFRWAIIL FIILFILLLF LAIFIYAFPN YAAMKLVKPF
S*
speed 1.31 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