Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999747865963 (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) chr1:55119515T>GN/A show variant in all transcripts   IGV
HGNC symbol MROH7
Ensembl transcript ID ENST00000545244
Genbank transcript ID N/A
UniProt peptide Q68CQ1
alteration type single base exchange
alteration region intron
DNA changes g.12057T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 splice site change before start ATG (at aa -21) |
effectgDNA positionscoredetection 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 11325
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
252355COMPBIASSer-rich.might get lost (downstream of altered splice site)
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 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 242 / 242
chromosome 1
strand 1
last intron/exon boundary 1795
theoretical NMD boundary in CDS 1503
length of CDS 1623
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)		 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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MALVENVTTL QKSQDLLEAE GEKKTMIKKI MRQIQEEPLD SLSSSVRKQA MEILTQLSHT
QPTLGMRERS ELVNVCVHSV FSLPSVQAMQ EKDEAKAETI QALYHQTLEA LQTLLKALFI
EDPTPAGLKS ILEALGPWMN SGKAHERARA VNTNVSVLNH MLLTLPFFMP LGFPALGLLL
GRLILHIGDP DEEIGCEALD GIIILYTILE LQKRARDKEE TNKKELYESN KHFLGPYNPV
SPCQNILRVI EEFGDFLGPQ QIKDLLLAAL EGLKGSSEAP GKDSREMMQL ASEVMLSSVL
EWYRHRALEV IPEIMQGIYM QLSHIQEPRA RQVALLPVSL LASSFMTEVV VALLMCPLPL
NSNGAEMWRQ LILCKPSCDV RDLLDLLLGS LKEKPVTKEG RASIVPLAAA SGLCELLSVN
SCMGRVRRIY PQLLLALLIQ VHYHIGLNLP GCVAPPKDTK KGAQPSPFVP VRWVVKVVKT
LLLRMGCSYE TTFLEDQGGW ELMEQVESHH RGVALLASSS RWSRCAGSPR NTLWGGWQKA
*
mutated AA sequence N/A
speed 0.62 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