Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0206506839279234 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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) chr16:15820863C>TN/A show variant in all transcripts   IGV
HGNC symbol MYH11
Ensembl transcript ID ENST00000396324
Genbank transcript ID NM_001040114
UniProt peptide P35749
alteration type single base exchange
alteration region CDS
DNA changes c.3721G>A
cDNA.3809G>A
g.130028G>A
AA changes A1241T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1241
frameshift no
known variant Reference ID: rs587781052
databasehomozygous (T/T)heterozygousallele carriers
1000G124773897
ExAC39582191025868
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.6070.881
1.0550.887
(flanking)-0.0050.882
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased130030wt: 0.74 / mu: 0.86wt: AACGCAGACCTGGCC
mu: AACACAGACCTGGCC		 CGCA|gacc
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1241DKNKQTLEKENADLAGELRVLGQA
mutated  not conserved    1241DKNKQTLEKENTDLAGELRVLGQ
Ptroglodytes  all identical  ENSPTRG00000007810  1203DKNKQTLEKENADLAGELRVLGQ
Mmulatta  all identical  ENSMMUG00000010367  1240DKNKQTLEKENADLAGELRVLGQ
Fcatus  not conserved  ENSFCAG00000013232  1241DKNXXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000018830  1234DKSKQTLEKENADLAGELRVLGQ
Ggallus  all identical  ENSGALG00000006520  1240DKTKQTLEKDNADLANEIRSLSQ
Trubripes  all conserved  ENSTRUG00000010806  1240EKAKQALEKETSELTMEVRSLVQ
Drerio  all conserved  ENSDARG00000009782  1232EKAKQALEKETSELHVELRSLTQ
Dmelanogaster  all identical  FBgn0005634  1317EKAKGTLEAENADLATELRSVNS
Celegans  all identical  F52B10.1  1233EKQQNQADQERADMAQEIALLQA
Xtropicalis  all conserved  ENSXETG00000019650  1240EKSKQALEKDNSELTIEIRSLNQ
protein features
start (aa)end (aa)featuredetails 
8441934COILEDPotential.lost
15391539MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
15461546MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
15581558CONFLICTT -> S (in Ref. 8).might get lost (downstream of altered splice site)
16101611CONFLICTKQ -> NE (in Ref. 8).might get lost (downstream of altered splice site)
17861786CONFLICTA -> S (in Ref. 9; CAA49154).might get lost (downstream of altered splice site)
19351972REGIONC-terminal.might get lost (downstream of altered splice site)
19541954MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19581958CONFLICTT -> L (in Ref. 8).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5940 / 5940
position (AA) of stopcodon in wt / mu AA sequence 1980 / 1980
position of stopcodon in wt / mu cDNA 6028 / 6028
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 89 / 89
chromosome 16
strand -1
last intron/exon boundary 5896
theoretical NMD boundary in CDS 5757
length of CDS 5940
coding sequence (CDS) position 3721
cDNA position
(for ins/del: last normal base / first normal base)		 3809
gDNA position
(for ins/del: last normal base / first normal base)		 130028
chromosomal position
(for ins/del: last normal base / first normal base)		 15820863
original gDNA sequence snippet AGACGCTGGAGAAAGAGAACGCAGACCTGGCCGGGGAGCTG
altered gDNA sequence snippet AGACGCTGGAGAAAGAGAACACAGACCTGGCCGGGGAGCTG
original cDNA sequence snippet AGACGCTGGAGAAAGAGAACGCAGACCTGGCCGGGGAGCTG
altered cDNA sequence snippet AGACGCTGGAGAAAGAGAACACAGACCTGGCCGGGGAGCTG
wildtype AA sequence MAQKGQLSDD EKFLFVDKNF INSPVAQADW AAKRLVWVPS EKQGFEAASI KEEKGDEVVV
ELVENGKKVT VGKDDIQKMN PPKFSKVEDM AELTCLNEAS VLHNLRERYF SGLIYTYSGL
FCVVVNPYKH LPIYSEKIVD MYKGKKRHEM PPHIYAIADT AYRSMLQDRE DQSILCTGES
GAGKTENTKK VIQYLAVVAS SHKGKKDTSI TQGPSFAYGE LEKQLLQANP ILEAFGNAKT
VKNDNSSRFG KFIRINFDVT GYIVGANIET YLLEKSRAIR QARDERTFHI FYYMIAGAKE
KMRSDLLLEG FNNYTFLSNG FVPIPAAQDD EMFQETVEAM AIMGFSEEEQ LSILKVVSSV
LQLGNIVFKK ERNTDQASMP DNTAAQKVCH LMGINVTDFT RSILTPRIKV GRDVVQKAQT
KEQADFAVEA LAKATYERLF RWILTRVNKA LDKTHRQGAS FLGILDIAGF EIFEVNSFEQ
LCINYTNEKL QQLFNHTMFI LEQEEYQREG IEWNFIDFGL DLQPCIELIE RPNNPPGVLA
LLDEECWFPK ATDKSFVEKL CTEQGSHPKF QKPKQLKDKT EFSIIHYAGK VDYNASAWLT
KNMDPLNDNV TSLLNASSDK FVADLWKDVD RIVGLDQMAK MTESSLPSAS KTKKGMFRTV
GQLYKEQLGK LMTTLRNTTP NFVRCIIPNH EKRSGKLDAF LVLEQLRCNG VLEGIRICRQ
GFPNRIVFQE FRQRYEILAA NAIPKGFMDG KQACILMIKA LELDPNLYRI GQSKIFFRTG
VLAHLEEERD LKITDVIMAF QAMCRGYLAR KAFAKRQQQL TAMKVIQRNC AAYLKLRNWQ
WWRLFTKVKP LLQVTRQEEE MQAKEDELQK TKERQQKAEN ELKELEQKHS QLTEEKNLLQ
EQLQAETELY AEAEEMRVRL AAKKQELEEI LHEMEARLEE EEDRGQQLQA ERKKMAQQML
DLEEQLEEEE AARQKLQLEK VTAEAKIKKL EDEILVMDDQ NNKLSKERKL LEERISDLTT
NLAEEEEKAK NLTKLKNKHE SMISELEVRL KKEEKSRQEL EKLKRKLEGD ASDFHEQIAD
LQAQIAELKM QLAKKEEELQ AALARLDDEI AQKNNALKKI RELEGHISDL QEDLDSERAA
RNKAEKQKRD LGEELEALKT ELEDTLDSTA TQQELRAKRE QEVTVLKKAL DEETRSHEAQ
VQEMRQKHAQ AVEELTEQLE QFKRAKANLD KNKQTLEKEN ADLAGELRVL GQAKQEVEHK
KKKLEAQVQE LQSKCSDGER ARAELNDKVH KLQNEVESVT GMLNEAEGKA IKLAKDVASL
SSQLQDTQEL LQEETRQKLN VSTKLRQLEE ERNSLQDQLD EEMEAKQNLE RHISTLNIQL
SDSKKKLQDF ASTVEALEEG KKRFQKEIEN LTQQYEEKAA AYDKLEKTKN RLQQELDDLV
VDLDNQRQLV SNLEKKQRKF DQLLAEEKNI SSKYADERDR AEAEAREKET KALSLARALE
EALEAKEELE RTNKMLKAEM EDLVSSKDDV GKNVHELEKS KRALETQMEE MKTQLEELED
ELQATEDAKL RLEVNMQALK GQFERDLQAR DEQNEEKRRQ LQRQLHEYET ELEDERKQRA
LAAAAKKKLE GDLKDLELQA DSAIKGREEA IKQLRKLQAQ MKDFQRELED ARASRDEIFA
TAKENEKKAK SLEADLMQLQ EDLAAAERAR KQADLEKEEL AEELASSLSG RNALQDEKRR
LEARIAQLEE ELEEEQGNME AMSDRVRKAT QQAEQLSNEL ATERSTAQKN ESARQQLERQ
NKELRSKLHE MEGAVKSKFK STIAALEAKI AQLEEQVEQE AREKQAATKS LKQKDKKLKE
ILLQVEDERK MAEQYKEQAE KGNARVKQLK RQLEEAEEES QRINANRRKL QRELDEATES
NEAMGREVNA LKSKLRRGNE TSFVPSRRSG GRRVIENADG SEEETDTRDA DFNGTKASE*
mutated AA sequence MAQKGQLSDD EKFLFVDKNF INSPVAQADW AAKRLVWVPS EKQGFEAASI KEEKGDEVVV
ELVENGKKVT VGKDDIQKMN PPKFSKVEDM AELTCLNEAS VLHNLRERYF SGLIYTYSGL
FCVVVNPYKH LPIYSEKIVD MYKGKKRHEM PPHIYAIADT AYRSMLQDRE DQSILCTGES
GAGKTENTKK VIQYLAVVAS SHKGKKDTSI TQGPSFAYGE LEKQLLQANP ILEAFGNAKT
VKNDNSSRFG KFIRINFDVT GYIVGANIET YLLEKSRAIR QARDERTFHI FYYMIAGAKE
KMRSDLLLEG FNNYTFLSNG FVPIPAAQDD EMFQETVEAM AIMGFSEEEQ LSILKVVSSV
LQLGNIVFKK ERNTDQASMP DNTAAQKVCH LMGINVTDFT RSILTPRIKV GRDVVQKAQT
KEQADFAVEA LAKATYERLF RWILTRVNKA LDKTHRQGAS FLGILDIAGF EIFEVNSFEQ
LCINYTNEKL QQLFNHTMFI LEQEEYQREG IEWNFIDFGL DLQPCIELIE RPNNPPGVLA
LLDEECWFPK ATDKSFVEKL CTEQGSHPKF QKPKQLKDKT EFSIIHYAGK VDYNASAWLT
KNMDPLNDNV TSLLNASSDK FVADLWKDVD RIVGLDQMAK MTESSLPSAS KTKKGMFRTV
GQLYKEQLGK LMTTLRNTTP NFVRCIIPNH EKRSGKLDAF LVLEQLRCNG VLEGIRICRQ
GFPNRIVFQE FRQRYEILAA NAIPKGFMDG KQACILMIKA LELDPNLYRI GQSKIFFRTG
VLAHLEEERD LKITDVIMAF QAMCRGYLAR KAFAKRQQQL TAMKVIQRNC AAYLKLRNWQ
WWRLFTKVKP LLQVTRQEEE MQAKEDELQK TKERQQKAEN ELKELEQKHS QLTEEKNLLQ
EQLQAETELY AEAEEMRVRL AAKKQELEEI LHEMEARLEE EEDRGQQLQA ERKKMAQQML
DLEEQLEEEE AARQKLQLEK VTAEAKIKKL EDEILVMDDQ NNKLSKERKL LEERISDLTT
NLAEEEEKAK NLTKLKNKHE SMISELEVRL KKEEKSRQEL EKLKRKLEGD ASDFHEQIAD
LQAQIAELKM QLAKKEEELQ AALARLDDEI AQKNNALKKI RELEGHISDL QEDLDSERAA
RNKAEKQKRD LGEELEALKT ELEDTLDSTA TQQELRAKRE QEVTVLKKAL DEETRSHEAQ
VQEMRQKHAQ AVEELTEQLE QFKRAKANLD KNKQTLEKEN TDLAGELRVL GQAKQEVEHK
KKKLEAQVQE LQSKCSDGER ARAELNDKVH KLQNEVESVT GMLNEAEGKA IKLAKDVASL
SSQLQDTQEL LQEETRQKLN VSTKLRQLEE ERNSLQDQLD EEMEAKQNLE RHISTLNIQL
SDSKKKLQDF ASTVEALEEG KKRFQKEIEN LTQQYEEKAA AYDKLEKTKN RLQQELDDLV
VDLDNQRQLV SNLEKKQRKF DQLLAEEKNI SSKYADERDR AEAEAREKET KALSLARALE
EALEAKEELE RTNKMLKAEM EDLVSSKDDV GKNVHELEKS KRALETQMEE MKTQLEELED
ELQATEDAKL RLEVNMQALK GQFERDLQAR DEQNEEKRRQ LQRQLHEYET ELEDERKQRA
LAAAAKKKLE GDLKDLELQA DSAIKGREEA IKQLRKLQAQ MKDFQRELED ARASRDEIFA
TAKENEKKAK SLEADLMQLQ EDLAAAERAR KQADLEKEEL AEELASSLSG RNALQDEKRR
LEARIAQLEE ELEEEQGNME AMSDRVRKAT QQAEQLSNEL ATERSTAQKN ESARQQLERQ
NKELRSKLHE MEGAVKSKFK STIAALEAKI AQLEEQVEQE AREKQAATKS LKQKDKKLKE
ILLQVEDERK MAEQYKEQAE KGNARVKQLK RQLEEAEEES QRINANRRKL QRELDEATES
NEAMGREVNA LKSKLRRGNE TSFVPSRRSG GRRVIENADG SEEETDTRDA DFNGTKASE*
speed 0.96 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