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 ENST00000338282
Genbank transcript ID NM_022844
UniProt peptide P35749
alteration type single base exchange
alteration region CDS
DNA changes c.3700G>A
cDNA.3807G>A
g.130028G>A
AA changes A1234T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1234
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      1234DKNKQTLEKENADLAGELRVLGQA
mutated  not conserved    1234DKNKQTLEKENTDLAGELRVLGQ
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 5817 / 5817
position (AA) of stopcodon in wt / mu AA sequence 1939 / 1939
position of stopcodon in wt / mu cDNA 5924 / 5924
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 108 / 108
chromosome 16
strand -1
last intron/exon boundary 5933
theoretical NMD boundary in CDS 5775
length of CDS 5817
coding sequence (CDS) position 3700
cDNA position
(for ins/del: last normal base / first normal base)		 3807
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 TGELEKQLLQ ANPILEAFGN AKTVKNDNSS
RFGKFIRINF DVTGYIVGAN IETYLLEKSR AIRQARDERT FHIFYYMIAG AKEKMRSDLL
LEGFNNYTFL SNGFVPIPAA QDDEMFQETV EAMAIMGFSE EEQLSILKVV SSVLQLGNIV
FKKERNTDQA SMPDNTAAQK VCHLMGINVT DFTRSILTPR IKVGRDVVQK AQTKEQADFA
VEALAKATYE RLFRWILTRV NKALDKTHRQ GASFLGILDI AGFEIFEVNS FEQLCINYTN
EKLQQLFNHT MFILEQEEYQ REGIEWNFID FGLDLQPCIE LIERPNNPPG VLALLDEECW
FPKATDKSFV EKLCTEQGSH PKFQKPKQLK DKTEFSIIHY AGKVDYNASA WLTKNMDPLN
DNVTSLLNAS SDKFVADLWK DVDRIVGLDQ MAKMTESSLP SASKTKKGMF RTVGQLYKEQ
LGKLMTTLRN TTPNFVRCII PNHEKRSGKL DAFLVLEQLR CNGVLEGIRI CRQGFPNRIV
FQEFRQRYEI LAANAIPKGF MDGKQACILM IKALELDPNL YRIGQSKIFF RTGVLAHLEE
ERDLKITDVI MAFQAMCRGY LARKAFAKRQ QQLTAMKVIQ RNCAAYLKLR NWQWWRLFTK
VKPLLQVTRQ EEEMQAKEDE LQKTKERQQK AENELKELEQ KHSQLTEEKN LLQEQLQAET
ELYAEAEEMR VRLAAKKQEL EEILHEMEAR LEEEEDRGQQ LQAERKKMAQ QMLDLEEQLE
EEEAARQKLQ LEKVTAEAKI KKLEDEILVM DDQNNKLSKE RKLLEERISD LTTNLAEEEE
KAKNLTKLKN KHESMISELE VRLKKEEKSR QELEKLKRKL EGDASDFHEQ IADLQAQIAE
LKMQLAKKEE ELQAALARLD DEIAQKNNAL KKIRELEGHI SDLQEDLDSE RAARNKAEKQ
KRDLGEELEA LKTELEDTLD STATQQELRA KREQEVTVLK KALDEETRSH EAQVQEMRQK
HAQAVEELTE QLEQFKRAKA NLDKNKQTLE KENADLAGEL RVLGQAKQEV EHKKKKLEAQ
VQELQSKCSD GERARAELND KVHKLQNEVE SVTGMLNEAE GKAIKLAKDV ASLSSQLQDT
QELLQEETRQ KLNVSTKLRQ LEEERNSLQD QLDEEMEAKQ NLERHISTLN IQLSDSKKKL
QDFASTVEAL EEGKKRFQKE IENLTQQYEE KAAAYDKLEK TKNRLQQELD DLVVDLDNQR
QLVSNLEKKQ RKFDQLLAEE KNISSKYADE RDRAEAEARE KETKALSLAR ALEEALEAKE
ELERTNKMLK AEMEDLVSSK DDVGKNVHEL EKSKRALETQ MEEMKTQLEE LEDELQATED
AKLRLEVNMQ ALKGQFERDL QARDEQNEEK RRQLQRQLHE YETELEDERK QRALAAAAKK
KLEGDLKDLE LQADSAIKGR EEAIKQLRKL QAQMKDFQRE LEDARASRDE IFATAKENEK
KAKSLEADLM QLQEDLAAAE RARKQADLEK EELAEELASS LSGRNALQDE KRRLEARIAQ
LEEELEEEQG NMEAMSDRVR KATQQAEQLS NELATERSTA QKNESARQQL ERQNKELRSK
LHEMEGAVKS KFKSTIAALE AKIAQLEEQV EQEAREKQAA TKSLKQKDKK LKEILLQVED
ERKMAEQYKE QAEKGNARVK QLKRQLEEAE EESQRINANR RKLQRELDEA TESNEAMGRE
VNALKSKLRG PPPQETSQ*
mutated AA sequence MAQKGQLSDD EKFLFVDKNF INSPVAQADW AAKRLVWVPS EKQGFEAASI KEEKGDEVVV
ELVENGKKVT VGKDDIQKMN PPKFSKVEDM AELTCLNEAS VLHNLRERYF SGLIYTYSGL
FCVVVNPYKH LPIYSEKIVD MYKGKKRHEM PPHIYAIADT AYRSMLQDRE DQSILCTGES
GAGKTENTKK VIQYLAVVAS SHKGKKDTSI TGELEKQLLQ ANPILEAFGN AKTVKNDNSS
RFGKFIRINF DVTGYIVGAN IETYLLEKSR AIRQARDERT FHIFYYMIAG AKEKMRSDLL
LEGFNNYTFL SNGFVPIPAA QDDEMFQETV EAMAIMGFSE EEQLSILKVV SSVLQLGNIV
FKKERNTDQA SMPDNTAAQK VCHLMGINVT DFTRSILTPR IKVGRDVVQK AQTKEQADFA
VEALAKATYE RLFRWILTRV NKALDKTHRQ GASFLGILDI AGFEIFEVNS FEQLCINYTN
EKLQQLFNHT MFILEQEEYQ REGIEWNFID FGLDLQPCIE LIERPNNPPG VLALLDEECW
FPKATDKSFV EKLCTEQGSH PKFQKPKQLK DKTEFSIIHY AGKVDYNASA WLTKNMDPLN
DNVTSLLNAS SDKFVADLWK DVDRIVGLDQ MAKMTESSLP SASKTKKGMF RTVGQLYKEQ
LGKLMTTLRN TTPNFVRCII PNHEKRSGKL DAFLVLEQLR CNGVLEGIRI CRQGFPNRIV
FQEFRQRYEI LAANAIPKGF MDGKQACILM IKALELDPNL YRIGQSKIFF RTGVLAHLEE
ERDLKITDVI MAFQAMCRGY LARKAFAKRQ QQLTAMKVIQ RNCAAYLKLR NWQWWRLFTK
VKPLLQVTRQ EEEMQAKEDE LQKTKERQQK AENELKELEQ KHSQLTEEKN LLQEQLQAET
ELYAEAEEMR VRLAAKKQEL EEILHEMEAR LEEEEDRGQQ LQAERKKMAQ QMLDLEEQLE
EEEAARQKLQ LEKVTAEAKI KKLEDEILVM DDQNNKLSKE RKLLEERISD LTTNLAEEEE
KAKNLTKLKN KHESMISELE VRLKKEEKSR QELEKLKRKL EGDASDFHEQ IADLQAQIAE
LKMQLAKKEE ELQAALARLD DEIAQKNNAL KKIRELEGHI SDLQEDLDSE RAARNKAEKQ
KRDLGEELEA LKTELEDTLD STATQQELRA KREQEVTVLK KALDEETRSH EAQVQEMRQK
HAQAVEELTE QLEQFKRAKA NLDKNKQTLE KENTDLAGEL RVLGQAKQEV EHKKKKLEAQ
VQELQSKCSD GERARAELND KVHKLQNEVE SVTGMLNEAE GKAIKLAKDV ASLSSQLQDT
QELLQEETRQ KLNVSTKLRQ LEEERNSLQD QLDEEMEAKQ NLERHISTLN IQLSDSKKKL
QDFASTVEAL EEGKKRFQKE IENLTQQYEE KAAAYDKLEK TKNRLQQELD DLVVDLDNQR
QLVSNLEKKQ RKFDQLLAEE KNISSKYADE RDRAEAEARE KETKALSLAR ALEEALEAKE
ELERTNKMLK AEMEDLVSSK DDVGKNVHEL EKSKRALETQ MEEMKTQLEE LEDELQATED
AKLRLEVNMQ ALKGQFERDL QARDEQNEEK RRQLQRQLHE YETELEDERK QRALAAAAKK
KLEGDLKDLE LQADSAIKGR EEAIKQLRKL QAQMKDFQRE LEDARASRDE IFATAKENEK
KAKSLEADLM QLQEDLAAAE RARKQADLEK EELAEELASS LSGRNALQDE KRRLEARIAQ
LEEELEEEQG NMEAMSDRVR KATQQAEQLS NELATERSTA QKNESARQQL ERQNKELRSK
LHEMEGAVKS KFKSTIAALE AKIAQLEEQV EQEAREKQAA TKSLKQKDKK LKEILLQVED
ERKMAEQYKE QAEKGNARVK QLKRQLEEAE EESQRINANR RKLQRELDEA TESNEAMGRE
VNALKSKLRG PPPQETSQ*
speed 1.06 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