Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999978 (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) chr1:55119515T>GN/A show variant in all transcripts   IGV
HGNC symbol MROH7
Ensembl transcript ID ENST00000339553
Genbank transcript ID N/A
UniProt peptide Q68CQ1
alteration type single base exchange
alteration region CDS
DNA changes c.916T>G
cDNA.1194T>G
g.12057T>G
AA changes Y306D Score: 160 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 306
frameshift no
known variant Reference ID: rs1655519
databasehomozygous (G/G)heterozygousallele carriers
1000G47411831657
ExAC95541365923213
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2370
0.6180.001
(flanking)0.3610.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12048wt: 0.6951 / mu: 0.7443 (marginal change - not scored)wt: CGTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGC
mu: CGTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGC		 cctg|GCTC
Acc increased12049wt: 0.31 / mu: 0.40wt: GTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCC
mu: GTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCC		 ctgg|CTCC
Acc increased12052wt: 0.32 / mu: 0.43wt: TGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGC
mu: TGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGC		 gctc|CAGC
Donor marginally increased12054wt: 0.9922 / mu: 0.9972 (marginal change - not scored)wt: GCTCCAGCTATGGTA
mu: GCTCCAGCGATGGTA		 TCCA|gcta
distance from splice site 316
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      306ASYVTLIPGSSYGISLHSSTHEPN
mutated  not conserved    306IPGSSDGISLHSSTHEP
Ptroglodytes  not conserved  ENSPTRG00000000773  306IPGSSDGISLHSSTHGP
Mmulatta  no alignment  ENSMMUG00000032085  n/a
Fcatus  no alignment  ENSFCAG00000003985  n/a
Mmusculus  not conserved  ENSMUSG00000047502  284IPGSSEGLSLQSSARVP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040236  n/a
Celegans  no alignment  C34G6.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
252355COMPBIASSer-rich.lost
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
438438CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
583583CONFLICTV -> A (in Ref. 1; BAC85285).might get lost (downstream of altered splice site)
586586CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767787TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
957995REPEATHEAT 1.might get lost (downstream of altered splice site)
10361074REPEATHEAT 2.might get lost (downstream of altered splice site)
10791117REPEATHEAT 3.might get lost (downstream of altered splice site)
10991099CONFLICTV -> D (in Ref. 2; CAH18687, 1; BAC87334 and 4; AAH29191).might get lost (downstream of altered splice site)
11251162REPEATHEAT 4.might get lost (downstream of altered splice site)
11551155CONFLICTR -> C (in Ref. 1; BAC87334).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3135 / 3135
position (AA) of stopcodon in wt / mu AA sequence 1045 / 1045
position of stopcodon in wt / mu cDNA 3413 / 3413
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 279 / 279
chromosome 1
strand 1
last intron/exon boundary 3281
theoretical NMD boundary in CDS 2952
length of CDS 3135
coding sequence (CDS) position 916
cDNA position
(for ins/del: last normal base / first normal base)		 1194
gDNA position
(for ins/del: last normal base / first normal base)		 12057
chromosomal position
(for ins/del: last normal base / first normal base)		 55119515
original gDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered gDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
original cDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered cDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
wildtype AA sequence MALSPGANLV FHEDPKMTPS PPSCGAPGLG SGTIPQPHPD MAQVPMLNLL PSPGLALVPD
LNDSLSPVSG EASGLVSENT PRPDDSRAIA PASLQITSSC SGEALDLDSK DVSRPDSQGR
LCPASNPILS PSSTEAPRLS SGNHPQSNSE DAFKCLSSKI FKLGQRNSNP SRHELNPFIR
HHSREGLVLG HCISRPSSKA LLIPTSNSSL DLDSNPLLNM GSRNTSKLNL NVAPDSHGTL
IPDTNETITL ASHNISESVS KGAFSTTWST SSKETMNVAS SGHSRSDLSV TITQASYVTL
IPGSSYGISL HSSTHEPNST ISPPSCMTLI LGSNETLSLD SSLLFSDTST LTLSSQQDDA
KDNSIHTVPL EENLESWSEM ASIKVGQFPL GFPISNPAGK DAVTLQGIPE GAFDEVTSCL
VKVPEKTEGG NNMALVENVT TLQKSQDLLE AEGEKKTMIK KIMRQIQEEP LDSLSSSVRK
QAMEILTQLS HTQPTLGMRE RSELVNVCVH SVFSLPSVQA MQEKDEAKAE TIQALYHQTL
EALQTLLKAL FIEDPTPAGL KSILEALGPW MNSGKAHERA RAVNTNVSVL NHMLLTLPFF
MPLGFPALGL LLGRLILHIG DPDEEIGCEA LDGIIILYTI LELQKRARDK EETNKKELYE
SNKHFLGPYN PVSPCQNILR VIEEFGDFLG PQQIKDLLLA ALEGLKGSSE APGKDSREMM
QLASEVMLSS VLEWYRHRAL EVIPEIMQGI YMQLSHIQEP RARQVALLPV SLLASSFMTE
VVVALLMCPL PLNSNGAEMW RQLILCKPSC DVRDLLDLLL GSLKEKPVTK EGRASIVPLA
AASGLCELLS VNSCMGRVRR IYPQLLLALL IQVHYHIGLN LPGCVAPPKD TKKGAQPSPF
VPVRWVVKVV KTLLLRMGCS YETTFLEDQG GWELMEQVES HHRGVALLAR AMVQYSCQEL
CRILYLLIPL LERGDEKHRI TATAFFVEQP CEEGIVILML RISWERQQQA VTGARSWRVT
HSALPHGADG HQTETSSNLL VLQV*
mutated AA sequence MALSPGANLV FHEDPKMTPS PPSCGAPGLG SGTIPQPHPD MAQVPMLNLL PSPGLALVPD
LNDSLSPVSG EASGLVSENT PRPDDSRAIA PASLQITSSC SGEALDLDSK DVSRPDSQGR
LCPASNPILS PSSTEAPRLS SGNHPQSNSE DAFKCLSSKI FKLGQRNSNP SRHELNPFIR
HHSREGLVLG HCISRPSSKA LLIPTSNSSL DLDSNPLLNM GSRNTSKLNL NVAPDSHGTL
IPDTNETITL ASHNISESVS KGAFSTTWST SSKETMNVAS SGHSRSDLSV TITQASYVTL
IPGSSDGISL HSSTHEPNST ISPPSCMTLI LGSNETLSLD SSLLFSDTST LTLSSQQDDA
KDNSIHTVPL EENLESWSEM ASIKVGQFPL GFPISNPAGK DAVTLQGIPE GAFDEVTSCL
VKVPEKTEGG NNMALVENVT TLQKSQDLLE AEGEKKTMIK KIMRQIQEEP LDSLSSSVRK
QAMEILTQLS HTQPTLGMRE RSELVNVCVH SVFSLPSVQA MQEKDEAKAE TIQALYHQTL
EALQTLLKAL FIEDPTPAGL KSILEALGPW MNSGKAHERA RAVNTNVSVL NHMLLTLPFF
MPLGFPALGL LLGRLILHIG DPDEEIGCEA LDGIIILYTI LELQKRARDK EETNKKELYE
SNKHFLGPYN PVSPCQNILR VIEEFGDFLG PQQIKDLLLA ALEGLKGSSE APGKDSREMM
QLASEVMLSS VLEWYRHRAL EVIPEIMQGI YMQLSHIQEP RARQVALLPV SLLASSFMTE
VVVALLMCPL PLNSNGAEMW RQLILCKPSC DVRDLLDLLL GSLKEKPVTK EGRASIVPLA
AASGLCELLS VNSCMGRVRR IYPQLLLALL IQVHYHIGLN LPGCVAPPKD TKKGAQPSPF
VPVRWVVKVV KTLLLRMGCS YETTFLEDQG GWELMEQVES HHRGVALLAR AMVQYSCQEL
CRILYLLIPL LERGDEKHRI TATAFFVEQP CEEGIVILML RISWERQQQA VTGARSWRVT
HSALPHGADG HQTETSSNLL VLQV*
speed 1.26 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