Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999869924230103 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM990894)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:76853783T>CN/A show variant in all transcripts   IGV
HGNC symbol MYO7A
Ensembl transcript ID ENST00000409709
Genbank transcript ID NM_000260
UniProt peptide Q13402
alteration type single base exchange
alteration region CDS
DNA changes c.47T>C
cDNA.319T>C
g.14474T>C
AA changes L16S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 16
frameshift no
known variant Reference ID: rs1052030
databasehomozygous (C/C)heterozygousallele carriers
1000G75010721822
ExAC97971317322970

known disease mutation at this position, please check HGMD for details (HGMD ID CM990894)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990894)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990894)
regulatory features H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.2060.993
1.630.927
(flanking)-1.6180.131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased14476wt: 0.25 / mu: 0.40wt: GATTGGGGCAGGAGT
mu: GATCGGGGCAGGAGT		 TTGG|ggca
distance from splice site 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      16QQGDHVWMDLRLGQEFDVPIGAVV
mutated  not conserved    16QQGDHVWMDLRSGQEFDVPIGAV
Ptroglodytes  no alignment  ENSPTRG00000004098  n/a
Mmulatta  not conserved  ENSMMUG00000018178  15QKGDYVWMDLRSGQEFDVPIGAV
Fcatus  not conserved  ENSFCAG00000014446  13RMGDYVWMDLRSGQEFDVPIGAV
Mmusculus  not conserved  ENSMUSG00000030761  16QKGDYVWMDLKSGQEFDVPIGAV
Ggallus  not conserved  ENSGALG00000000733  16QGDYVWMDLKTGREFDVPIGAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000061937  16QQGDYVWLDLKTGHEFEVPIGAV
Dmelanogaster  not conserved  FBgn0000317  16TRGDYIWIEPASGREFDVAIGAR
Celegans  not conserved  T10H10.1  16SKGDFIWIEPGK-TEGSIPIGAR
Xtropicalis  not conserved  ENSXETG00000010706  16KGDYVWLDLKTGREFDVPVGAV
protein features
start (aa)end (aa)featuredetails 
1729DOMAINMyosin head-like.lost
158165NP_BINDATP (Probable).might get lost (downstream of altered splice site)
172172CONFLICTL -> P (in Ref. 3; AAA20909).might get lost (downstream of altered splice site)
470470CONFLICTF -> L (in Ref. 2; AAC50927/AAC50722).might get lost (downstream of altered splice site)
576576CONFLICTD -> N (in Ref. 7; AAC51150).might get lost (downstream of altered splice site)
632639REGIONActin-binding (Probable).might get lost (downstream of altered splice site)
745765DOMAINIQ 1.might get lost (downstream of altered splice site)
768788DOMAINIQ 2.might get lost (downstream of altered splice site)
791811DOMAINIQ 3.might get lost (downstream of altered splice site)
794794CONFLICTF -> S (in Ref. 2; AAC50927/AAC50722 and 5; AAC50218).might get lost (downstream of altered splice site)
814834DOMAINIQ 4.might get lost (downstream of altered splice site)
837857DOMAINIQ 5.might get lost (downstream of altered splice site)
858935COILEDPotential.might get lost (downstream of altered splice site)
873873CONFLICTR -> Q (in Ref. 2; AAC50927/AAC50722 and 5; AAC50218).might get lost (downstream of altered splice site)
965965MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
10171253DOMAINMyTH4 1.might get lost (downstream of altered splice site)
10731075CONFLICTKIY -> RNS (in Ref. 5; AAC50218).might get lost (downstream of altered splice site)
12371237CONFLICTN -> S (in Ref. 2; AAC50927).might get lost (downstream of altered splice site)
12581602DOMAINFERM 1.might get lost (downstream of altered splice site)
16031672DOMAINSH3.might get lost (downstream of altered splice site)
17471896DOMAINMyTH4 2.might get lost (downstream of altered splice site)
19022205DOMAINFERM 2.might get lost (downstream of altered splice site)
21172118CONFLICTMissing (in Ref. 2; AAC50927).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6648 / 6648
position (AA) of stopcodon in wt / mu AA sequence 2216 / 2216
position of stopcodon in wt / mu cDNA 6920 / 6920
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 273 / 273
chromosome 11
strand 1
last intron/exon boundary 6831
theoretical NMD boundary in CDS 6508
length of CDS 6648
coding sequence (CDS) position 47
cDNA position
(for ins/del: last normal base / first normal base)		 319
gDNA position
(for ins/del: last normal base / first normal base)		 14474
chromosomal position
(for ins/del: last normal base / first normal base)		 76853783
original gDNA sequence snippet TGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGC
altered gDNA sequence snippet TGTGTGGATGGACCTGAGATCGGGGCAGGAGTTCGACGTGC
original cDNA sequence snippet TGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGC
altered cDNA sequence snippet TGTGTGGATGGACCTGAGATCGGGGCAGGAGTTCGACGTGC
wildtype AA sequence MVILQQGDHV WMDLRLGQEF DVPIGAVVKL CDSGQVQVVD DEDNEHWISP QNATHIKPMH
PTSVHGVEDM IRLGDLNEAG ILRNLLIRYR DHLIYTYTGS ILVAVNPYQL LSIYSPEHIR
QYTNKKIGEM PPHIFAIADN CYFNMKRNSR DQCCIISGES GAGKTESTKL ILQFLAAISG
QHSWIEQQVL EATPILEAFG NAKTIRNDNS SRFGKYIDIH FNKRGAIEGA KIEQYLLEKS
RVCRQALDER NYHVFYCMLE GMSEDQKKKL GLGQASDYNY LAMGNCITCE GRVDSQEYAN
IRSAMKVLMF TDTENWEISK LLAAILHLGN LQYEARTFEN LDACEVLFSP SLATAASLLE
VNPPDLMSCL TSRTLITRGE TVSTPLSREQ ALDVRDAFVK GIYGRLFVWI VDKINAAIYK
PPSQDVKNSR RSIGLLDIFG FENFAVNSFE QLCINFANEH LQQFFVRHVF KLEQEEYDLE
SIDWLHIEFT DNQDALDMIA NKPMNIISLI DEESKFPKGT DTTMLHKLNS QHKLNANYIP
PKNNHETQFG INHFAGIVYY ETQGFLEKNR DTLHGDIIQL VHSSRNKFIK QIFQADVAMG
AETRKRSPTL SSQFKRSLEL LMRTLGACQP FFVRCIKPNE FKKPMLFDRH LCVRQLRYSG
MMETIRIRRA GYPIRYSFVE FVERYRVLLP GVKPAYKQGD LRGTCQRMAE AVLGTHDDWQ
IGKTKIFLKD HHDMLLEVER DKAITDRVIL LQKVIRGFKD RSNFLKLKNA ATLIQRHWRG
HNCRKNYGLM RLGFLRLQAL HRSRKLHQQY RLARQRIIQF QARCRAYLVR KAFRHRLWAV
LTVQAYARGM IARRLHQRLR AEYLWRLEAE KMRLAEEEKL RKEMSAKKAK EEAERKHQER
LAQLAREDAE RELKEKEAAR RKKELLEQME RARHEPVNHS DMVDKMFGFL GTSGGLPGQE
GQAPSGFEDL ERGRREMVEE DLDAALPLPD EDEEDLSEYK FAKFAATYFQ GTTTHSYTRR
PLKQPLLYHD DEGDQLAALA VWITILRFMG DLPEPKYHTA MSDGSEKIPV MTKIYETLGK
KTYKRELQAL QGEGEAQLPE GQKKSSVRHK LVHLTLKKKS KLTEEVTKRL HDGESTVQGN
SMLEDRPTSN LEKLHFIIGN GILRPALRDE IYCQISKQLT HNPSKSSYAR GWILVSLCVG
CFAPSEKFVK YLRNFIHGGP PGYAPYCEER LRRTFVNGTR TQPPSWLELQ ATKSKKPIML
PVTFMDGTTK TLLTDSATTA KELCNALADK ISLKDRFGFS LYIALFDKVS SLGSGSDHVM
DAISQCEQYA KEQGAQERNA PWRLFFRKEV FTPWHSPSED NVATNLIYQQ VVRGVKFGEY
RCEKEDDLAE LASQQYFVDY GSEMILERLL NLVPTYIPDR EITPLKTLEK WAQLAIAAHK
KGIYAQRRTD AQKVKEDVVS YARFKWPLLF SRFYEAYKFS GPSLPKNDVI VAVNWTGVYF
VDEQEQVLLE LSFPEIMAVS SSRECRVWLS LGCSDLGCAA PHSGWAGLTP AGPCSPCWSC
RGAKTTAPSF TLATIKGDEY TFTSSNAEDI RDLVVTFLEG LRKRSKYVVA LQDNPNPAGE
ESGFLSFAKG DLIILDHDTG EQVMNSGWAN GINERTKQRG DFPTDSVYVM PTVTMPPREI
VALVTMTPDQ RQDVVRLLQL RTAEPEVRAK PYTLEEFSYD YFRPPPKHTL SRVMVSKARG
KDRLWSHTRE PLKQALLKKL LGSEELSQEA CLAFIAVLKY MGDYPSKRTR SVNELTDQIF
EGPLKAEPLK DEAYVQILKQ LTDNHIRYSE ERGWELLWLC TGLFPPSNIL LPHVQRFLQS
RKHCPLAIDC LQRLQKALRN GSRKYPPHLV EVEAIQHKTT QIFHKVYFPD DTDEAFEVES
STKAKDFCQN IATRLLLKSS EGFSLFVKIA DKVLSVPEND FFFDFVRHLT DWIKKARPIK
DGIVPSLTYQ VFFMKKLWTT TVPGKDPMAD SIFHYYQELP KYLRGYHKCT REEVLQLGAL
IYRVKFEEDK SYFPSIPKLL RELVPQDLIR QVSPDDWKRS IVAYFNKHAG KSKEEAKLAF
LKLIFKWPTF GSAFFEVKQT TEPNFPEILL IAINKYGVSL IDPKTKDILT THPFTKISNW
SSGNTYFHIT IGNLVRGSKL LCETSLGYKM DDLLTSYISQ MLTAMSKQRG SRSGK*
mutated AA sequence MVILQQGDHV WMDLRSGQEF DVPIGAVVKL CDSGQVQVVD DEDNEHWISP QNATHIKPMH
PTSVHGVEDM IRLGDLNEAG ILRNLLIRYR DHLIYTYTGS ILVAVNPYQL LSIYSPEHIR
QYTNKKIGEM PPHIFAIADN CYFNMKRNSR DQCCIISGES GAGKTESTKL ILQFLAAISG
QHSWIEQQVL EATPILEAFG NAKTIRNDNS SRFGKYIDIH FNKRGAIEGA KIEQYLLEKS
RVCRQALDER NYHVFYCMLE GMSEDQKKKL GLGQASDYNY LAMGNCITCE GRVDSQEYAN
IRSAMKVLMF TDTENWEISK LLAAILHLGN LQYEARTFEN LDACEVLFSP SLATAASLLE
VNPPDLMSCL TSRTLITRGE TVSTPLSREQ ALDVRDAFVK GIYGRLFVWI VDKINAAIYK
PPSQDVKNSR RSIGLLDIFG FENFAVNSFE QLCINFANEH LQQFFVRHVF KLEQEEYDLE
SIDWLHIEFT DNQDALDMIA NKPMNIISLI DEESKFPKGT DTTMLHKLNS QHKLNANYIP
PKNNHETQFG INHFAGIVYY ETQGFLEKNR DTLHGDIIQL VHSSRNKFIK QIFQADVAMG
AETRKRSPTL SSQFKRSLEL LMRTLGACQP FFVRCIKPNE FKKPMLFDRH LCVRQLRYSG
MMETIRIRRA GYPIRYSFVE FVERYRVLLP GVKPAYKQGD LRGTCQRMAE AVLGTHDDWQ
IGKTKIFLKD HHDMLLEVER DKAITDRVIL LQKVIRGFKD RSNFLKLKNA ATLIQRHWRG
HNCRKNYGLM RLGFLRLQAL HRSRKLHQQY RLARQRIIQF QARCRAYLVR KAFRHRLWAV
LTVQAYARGM IARRLHQRLR AEYLWRLEAE KMRLAEEEKL RKEMSAKKAK EEAERKHQER
LAQLAREDAE RELKEKEAAR RKKELLEQME RARHEPVNHS DMVDKMFGFL GTSGGLPGQE
GQAPSGFEDL ERGRREMVEE DLDAALPLPD EDEEDLSEYK FAKFAATYFQ GTTTHSYTRR
PLKQPLLYHD DEGDQLAALA VWITILRFMG DLPEPKYHTA MSDGSEKIPV MTKIYETLGK
KTYKRELQAL QGEGEAQLPE GQKKSSVRHK LVHLTLKKKS KLTEEVTKRL HDGESTVQGN
SMLEDRPTSN LEKLHFIIGN GILRPALRDE IYCQISKQLT HNPSKSSYAR GWILVSLCVG
CFAPSEKFVK YLRNFIHGGP PGYAPYCEER LRRTFVNGTR TQPPSWLELQ ATKSKKPIML
PVTFMDGTTK TLLTDSATTA KELCNALADK ISLKDRFGFS LYIALFDKVS SLGSGSDHVM
DAISQCEQYA KEQGAQERNA PWRLFFRKEV FTPWHSPSED NVATNLIYQQ VVRGVKFGEY
RCEKEDDLAE LASQQYFVDY GSEMILERLL NLVPTYIPDR EITPLKTLEK WAQLAIAAHK
KGIYAQRRTD AQKVKEDVVS YARFKWPLLF SRFYEAYKFS GPSLPKNDVI VAVNWTGVYF
VDEQEQVLLE LSFPEIMAVS SSRECRVWLS LGCSDLGCAA PHSGWAGLTP AGPCSPCWSC
RGAKTTAPSF TLATIKGDEY TFTSSNAEDI RDLVVTFLEG LRKRSKYVVA LQDNPNPAGE
ESGFLSFAKG DLIILDHDTG EQVMNSGWAN GINERTKQRG DFPTDSVYVM PTVTMPPREI
VALVTMTPDQ RQDVVRLLQL RTAEPEVRAK PYTLEEFSYD YFRPPPKHTL SRVMVSKARG
KDRLWSHTRE PLKQALLKKL LGSEELSQEA CLAFIAVLKY MGDYPSKRTR SVNELTDQIF
EGPLKAEPLK DEAYVQILKQ LTDNHIRYSE ERGWELLWLC TGLFPPSNIL LPHVQRFLQS
RKHCPLAIDC LQRLQKALRN GSRKYPPHLV EVEAIQHKTT QIFHKVYFPD DTDEAFEVES
STKAKDFCQN IATRLLLKSS EGFSLFVKIA DKVLSVPEND FFFDFVRHLT DWIKKARPIK
DGIVPSLTYQ VFFMKKLWTT TVPGKDPMAD SIFHYYQELP KYLRGYHKCT REEVLQLGAL
IYRVKFEEDK SYFPSIPKLL RELVPQDLIR QVSPDDWKRS IVAYFNKHAG KSKEEAKLAF
LKLIFKWPTF GSAFFEVKQT TEPNFPEILL IAINKYGVSL IDPKTKDILT THPFTKISNW
SSGNTYFHIT IGNLVRGSKL LCETSLGYKM DDLLTSYISQ MLTAMSKQRG SRSGK*
speed 0.44 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