Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999988361988641 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:59499179G>AN/A show variant in all transcripts   IGV
HGNC symbol MYO1E
Ensembl transcript ID ENST00000288235
Genbank transcript ID NM_004998
UniProt peptide Q12965
alteration type single base exchange
alteration region intron
DNA changes g.165921C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs3809530
databasehomozygous (A/A)heterozygousallele carriers
1000G47110751546
ExAC80141673924753
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0280.004
1.2460.004
(flanking)-0.2710.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased165931wt: 0.33 / mu: 0.61wt: ACCGAGCTCACTCTCTGGCTGGCCCGCACAACAGGCACAGT
mu: ACCGAGCTCATTCTCTGGCTGGCCCGCACAACAGGCACAGT		 gctg|GCCC
Acc marginally increased165926wt: 0.8700 / mu: 0.9225 (marginal change - not scored)wt: CTCCCACCGAGCTCACTCTCTGGCTGGCCCGCACAACAGGC
mu: CTCCCACCGAGCTCATTCTCTGGCTGGCCCGCACAACAGGC		 ctct|GGCT
Acc increased165928wt: 0.51 / mu: 0.58wt: CCCACCGAGCTCACTCTCTGGCTGGCCCGCACAACAGGCAC
mu: CCCACCGAGCTCATTCTCTGGCTGGCCCGCACAACAGGCAC		 ctgg|CTGG
Acc marginally increased165927wt: 0.7272 / mu: 0.7719 (marginal change - not scored)wt: TCCCACCGAGCTCACTCTCTGGCTGGCCCGCACAACAGGCA
mu: TCCCACCGAGCTCATTCTCTGGCTGGCCCGCACAACAGGCA		 tctg|GCTG
Donor marginally increased165915wt: 0.4343 / mu: 0.4381 (marginal change - not scored)wt: CACCGAGCTCACTCT
mu: CACCGAGCTCATTCT		 CCGA|gctc
distance from splice site 1495
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1679DOMAINMyosin head-like.might get lost (downstream of altered splice site)
581591REGIONActin-binding (Potential).might get lost (downstream of altered splice site)
695724DOMAINIQ.might get lost (downstream of altered splice site)
889892CONFLICTWSAG -> GVQGA (in Ref. 1; AAA62667).might get lost (downstream of altered splice site)
980980MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
984984CONFLICTN -> I (in Ref. 1; AAA62667).might get lost (downstream of altered splice site)
10511108DOMAINSH3.might get lost (downstream of altered splice site)
10971097CONFLICTQ -> P (in Ref. 1; AAA62667).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 401 / 401
chromosome 15
strand -1
last intron/exon boundary 3651
theoretical NMD boundary in CDS 3200
length of CDS 3327
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 165921
chromosomal position
(for ins/del: last normal base / first normal base)		 59499179
original gDNA sequence snippet ATTCGCTCCCACCGAGCTCACTCTCTGGCTGGCCCGCACAA
altered gDNA sequence snippet ATTCGCTCCCACCGAGCTCATTCTCTGGCTGGCCCGCACAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGSKGVYQYH WQSHNVKHSG VDDMVLLSKI TENSIVENLK KRYMDDYIFT YIGSVLISVN
PFKQMPYFGE KEIEMYQGAA QYENPPHIYA LADNMYRNMI IDRENQCVII SGESGAGKTV
AAKYIMSYIS RVSGGGTKVQ HVKDIILQSN PLLEAFGNAK TVRNNNSSRF GKYFEIQFSP
GGEPDGGKIS NFLLEKSRVV MRNPGERSFH IFYQLIEGAS AEQKHSLGIT SMDYYYYLSL
SGSYKVDDID DRREFQETLH AMNVIGIFAE EQTLVLQIVA GILHLGNISF KEVGNYAAVE
SEEFLAFPAY LLGINQDRLK EKLTSRQMDS KWGGKSESIH VTLNVEQACY TRDALAKALH
ARVFDFLVDS INKAMEKDHE EYNIGVLDIY GFEIFQKNGF EQFCINFVNE KLQQIFIELT
LKAEQEEYVQ EGIRWTPIEY FNNKIVCDLI ENKVNPPGIM SILDDVCATM HAVGEGADQT
LLQKLQMQIG SHEHFNSWNQ GFIIHHYAGK VSYDMDGFCE RNRDVLFMDL IELMQSSELP
FIKSLFPENL QADKKGRPTT AGSKIKKQAN DLVSTLMKCT PHYIRCIKPN ETKKPRDWEE
SRVKHQVEYL GLKENIRVRR AGYAYRRIFQ KFLQRYAILT KATWPSWQGE EKQGVLHLLQ
SVNMDSDQFQ LGRSKVFIKA PESLFLLEEM RERKYDGYAR VIQKSWRKFV ARKKYVQMRE
EASDLLLNKK ERRRNSINRN FIGDYIGMEE HPELQQFVGK REKIDFADTV TKYDRRFKGV
KRDLLLTPKC LYLIGREKVK QGPDKGLVKE VLKRKIEIER ILSVSLSTMQ DDIFILHEQE
YDSLLESVFK TEFLSLLAKR YEEKTQKQLP LKFSNTLELK LKKENWGPWS AGGSRQVQFH
QGFGDLAVLK PSNKVLQVSI GPGLPKNSRP TRRNTTQNTG YSSGTQNANY PVRAAPPPPG
YHQNGVIRNQ YVPYPHAPGS QRSNQKSLYT SMARPPLPRQ QSTSSDRVSQ TPESLDFLKV
PDQGAAGVRR QTTSRPPPAG GRPKPQPKPK PQVPQCKALY AYDAQDTDEL SFNANDIIDI
IKEDPSGWWT GRLRGKQGLF PNNYVTKI*
mutated AA sequence N/A
speed 0.73 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