Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999973525760672 (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 ENST00000409619
Genbank transcript ID N/A
UniProt peptide Q13402
alteration type single base exchange
alteration region CDS
DNA changes c.14T>C
cDNA.361T>C
g.14474T>C
AA changes L5S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 5
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      5 MDLRLGQEFDVPIGAVV
mutated  not conserved    5 MDLRSGQEFDVPIGAVVKLCDS
Ptroglodytes  no alignment  ENSPTRG00000004098  n/a
Mmulatta  not conserved  ENSMMUG00000018178  15 MDLRSGQEFDVPIGAVVKLCDS
Fcatus  not conserved  ENSFCAG00000014446  13 MDLRSGQEFDVPIGAVVKLCDS
Mmusculus  not conserved  ENSMUSG00000030761  16 MDLKSGQEFDVPIGAVVKLCDS
Ggallus  not conserved  ENSGALG00000000733  16 MDLKTGREFDVPIGAVVKLCDS
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000061937  16 LDLKTGHEFEVPIGAVVKLCDS
Dmelanogaster  no alignment  FBgn0000317  n/a
Celegans  no alignment  T10H10.1  n/a
Xtropicalis  not conserved  ENSXETG00000010706  16 LDLKTGREFDVPVGAVVKLCDS
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 6501 / 6501
position (AA) of stopcodon in wt / mu AA sequence 2167 / 2167
position of stopcodon in wt / mu cDNA 6848 / 6848
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 348 / 348
chromosome 11
strand 1
last intron/exon boundary 6759
theoretical NMD boundary in CDS 6361
length of CDS 6501
coding sequence (CDS) position 14
cDNA position
(for ins/del: last normal base / first normal base)		 361
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 MDLRLGQEFD VPIGAVVKLC DSGQVQVVDD EDNEHWISPQ NATHIKPMHP TSVHGVEDMI
RLGDLNEAGI LRNLLIRYRD HLIYTYTGSI LVAVNPYQLL SIYSPEHIRQ YTNKKIGEMP
PHIFAIADNC YFNMKRNSRD QCCIISGESG AGKTESTKLI LQFLAAISGQ HSWIEQQVLE
ATPILEAFGN AKTIRNDNSS RFGKYIDIHF NKRGAIEGAK IEQYLLEKSR VCRQALDERN
YHVFYCMLEG MSEDQKKKLG LGQASDYNYL AMGNCITCEG RVDSQEYANI RSAMKVLMFT
DTENWEISKL LAAILHLGNL QYEARTFENL DACEVLFSPS LATAASLLEV NPPDLMSCLT
SRTLITRGET VSTPLSREQA LDVRDAFVKG IYGRLFVWIV DKINAAIYKP PSQDVKNSRR
SIGLLDIFGF ENFAVNSFEQ LCINFANEHL QQFFVRHVFK LEQEEYDLES IDWLHIEFTD
NQDALDMIAN KPMNIISLID EESKFPKGTD TTMLHKLNSQ HKLNANYIPP KNNHETQFGI
NHFAGIVYYE TQGFLEKNRD TLHGDIIQLV HSSRNKFIKQ IFQADVAMGA ETRKRSPTLS
SQFKRSLELL MRTLGACQPF FVRCIKPNEF KKPMLFDRHL CVRQLRYSGM METIRIRRAG
YPIRYSFVEF VERYRVLLPG VKPAYKQGDL RGTCQRMAEA VLGTHDDWQI GKTKIFLKDH
HDMLLEVERD KAITDRVILL QKVIRGFKDR SNFLKLKNAA TLIQRHWRGH NCRKNYGLMR
LGFLRLQALH RSRKLHQQYR LARQRIIQFQ ARCRAYLVRK AFRHRLWAVL TVQAYARGMI
ARRLHQRLRA EYLWRLEAEK MRLAEEEKLR KEMSAKKAKE EAERKHQERL AQLAREDAER
ELKEKEAARR KKELLEQMER ARHEPVNHSD MVDKMFGFLG TSGGLPGQEG QAPSGFEDLE
RGRREMVEED LDAALPLPDE DEEDLSEYKF AKFAATYFQG TTTHSYTRRP LKQPLLYHDD
EGDQLAALAV WITILRFMGD LPEPKYHTAM SDGSEKIPVM TKIYETLGKK TYKRELQALQ
GEGEAQLPEG QKKSSVRHKL VHLTLKKKSK LTEEVTKRLH DGESTVQGNS MLEDRPTSNL
EKLHFIIGNG ILRPALRDEI YCQISKQLTH NPSKSSYARG WILVSLCVGC FAPSEKFVKY
LRNFIHGGPP GYAPYCEERL RRTFVNGTRT QPPSWLELQA TKSKKPIMLP VTFMDGTTKT
LLTDSATTAK ELCNALADKI SLKDRFGFSL YIALFDKVSS LGSGSDHVMD AISQCEQYAK
EQGAQERNAP WRLFFRKEVF TPWHSPSEDN VATNLIYQQV VRGVKFGEYR CEKEDDLAEL
ASQQYFVDYG SEMILERLLN LVPTYIPDRE ITPLKTLEKW AQLAIAAHKK GIYAQRRTDA
QKVKEDVVSY ARFKWPLLFS RFYEAYKFSG PSLPKNDVIV AVNWTGVYFV DEQEQVLLEL
SFPEIMAVSS SRGAKTTAPS FTLATIKGDE YTFTSSNAED IRDLVVTFLE GLRKRSKYVV
ALQDNPNPAG EESGFLSFAK GDLIILDHDT GEQVMNSGWA NGINERTKQR GDFPTDSVYV
MPTVTMPPRE IVALVTMTPD QRQDVVRLLQ LRTAEPEVRA KPYTLEEFSY DYFRPPPKHT
LSRVMVSKAR GKDRLWSHTR EPLKQALLKK LLGSEELSQE ACLAFIAVLK YMGDYPSKRT
RSVNELTDQI FEGPLKAEPL KDEAYVQILK QLTDNHIRYS EERGWELLWL CTGLFPPSNI
LLPHVQRFLQ SRKHCPLAID CLQRLQKALR NGSRKYPPHL VEVEAIQHKT TQIFHKVYFP
DDTDEAFEVE SSTKAKDFCQ NIATRLLLKS SEGFSLFVKI ADKVLSVPEN DFFFDFVRHL
TDWIKKARPI KDGIVPSLTY QVFFMKKLWT TTVPGKDPMA DSIFHYYQEL PKYLRGYHKC
TREEVLQLGA LIYRVKFEED KSYFPSIPKL LRELVPQDLI RQVSPDDWKR SIVAYFNKHA
GKSKEEAKLA FLKLIFKWPT FGSAFFEVKQ TTEPNFPEIL LIAINKYGVS LIDPKTKDIL
TTHPFTKISN WSSGNTYFHI TIGNLVRGSK LLCETSLGYK MDDLLTSYIS QMLTAMSKQR
GSRSGK*
mutated AA sequence MDLRSGQEFD VPIGAVVKLC DSGQVQVVDD EDNEHWISPQ NATHIKPMHP TSVHGVEDMI
RLGDLNEAGI LRNLLIRYRD HLIYTYTGSI LVAVNPYQLL SIYSPEHIRQ YTNKKIGEMP
PHIFAIADNC YFNMKRNSRD QCCIISGESG AGKTESTKLI LQFLAAISGQ HSWIEQQVLE
ATPILEAFGN AKTIRNDNSS RFGKYIDIHF NKRGAIEGAK IEQYLLEKSR VCRQALDERN
YHVFYCMLEG MSEDQKKKLG LGQASDYNYL AMGNCITCEG RVDSQEYANI RSAMKVLMFT
DTENWEISKL LAAILHLGNL QYEARTFENL DACEVLFSPS LATAASLLEV NPPDLMSCLT
SRTLITRGET VSTPLSREQA LDVRDAFVKG IYGRLFVWIV DKINAAIYKP PSQDVKNSRR
SIGLLDIFGF ENFAVNSFEQ LCINFANEHL QQFFVRHVFK LEQEEYDLES IDWLHIEFTD
NQDALDMIAN KPMNIISLID EESKFPKGTD TTMLHKLNSQ HKLNANYIPP KNNHETQFGI
NHFAGIVYYE TQGFLEKNRD TLHGDIIQLV HSSRNKFIKQ IFQADVAMGA ETRKRSPTLS
SQFKRSLELL MRTLGACQPF FVRCIKPNEF KKPMLFDRHL CVRQLRYSGM METIRIRRAG
YPIRYSFVEF VERYRVLLPG VKPAYKQGDL RGTCQRMAEA VLGTHDDWQI GKTKIFLKDH
HDMLLEVERD KAITDRVILL QKVIRGFKDR SNFLKLKNAA TLIQRHWRGH NCRKNYGLMR
LGFLRLQALH RSRKLHQQYR LARQRIIQFQ ARCRAYLVRK AFRHRLWAVL TVQAYARGMI
ARRLHQRLRA EYLWRLEAEK MRLAEEEKLR KEMSAKKAKE EAERKHQERL AQLAREDAER
ELKEKEAARR KKELLEQMER ARHEPVNHSD MVDKMFGFLG TSGGLPGQEG QAPSGFEDLE
RGRREMVEED LDAALPLPDE DEEDLSEYKF AKFAATYFQG TTTHSYTRRP LKQPLLYHDD
EGDQLAALAV WITILRFMGD LPEPKYHTAM SDGSEKIPVM TKIYETLGKK TYKRELQALQ
GEGEAQLPEG QKKSSVRHKL VHLTLKKKSK LTEEVTKRLH DGESTVQGNS MLEDRPTSNL
EKLHFIIGNG ILRPALRDEI YCQISKQLTH NPSKSSYARG WILVSLCVGC FAPSEKFVKY
LRNFIHGGPP GYAPYCEERL RRTFVNGTRT QPPSWLELQA TKSKKPIMLP VTFMDGTTKT
LLTDSATTAK ELCNALADKI SLKDRFGFSL YIALFDKVSS LGSGSDHVMD AISQCEQYAK
EQGAQERNAP WRLFFRKEVF TPWHSPSEDN VATNLIYQQV VRGVKFGEYR CEKEDDLAEL
ASQQYFVDYG SEMILERLLN LVPTYIPDRE ITPLKTLEKW AQLAIAAHKK GIYAQRRTDA
QKVKEDVVSY ARFKWPLLFS RFYEAYKFSG PSLPKNDVIV AVNWTGVYFV DEQEQVLLEL
SFPEIMAVSS SRGAKTTAPS FTLATIKGDE YTFTSSNAED IRDLVVTFLE GLRKRSKYVV
ALQDNPNPAG EESGFLSFAK GDLIILDHDT GEQVMNSGWA NGINERTKQR GDFPTDSVYV
MPTVTMPPRE IVALVTMTPD QRQDVVRLLQ LRTAEPEVRA KPYTLEEFSY DYFRPPPKHT
LSRVMVSKAR GKDRLWSHTR EPLKQALLKK LLGSEELSQE ACLAFIAVLK YMGDYPSKRT
RSVNELTDQI FEGPLKAEPL KDEAYVQILK QLTDNHIRYS EERGWELLWL CTGLFPPSNI
LLPHVQRFLQ SRKHCPLAID CLQRLQKALR NGSRKYPPHL VEVEAIQHKT TQIFHKVYFP
DDTDEAFEVE SSTKAKDFCQ NIATRLLLKS SEGFSLFVKI ADKVLSVPEN DFFFDFVRHL
TDWIKKARPI KDGIVPSLTY QVFFMKKLWT TTVPGKDPMA DSIFHYYQEL PKYLRGYHKC
TREEVLQLGA LIYRVKFEED KSYFPSIPKL LRELVPQDLI RQVSPDDWKR SIVAYFNKHA
GKSKEEAKLA FLKLIFKWPT FGSAFFEVKQ TTEPNFPEIL LIAINKYGVS LIDPKTKDIL
TTHPFTKISN WSSGNTYFHI TIGNLVRGSK LLCETSLGYK MDDLLTSYIS QMLTAMSKQR
GSRSGK*
speed 0.35 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