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 ENST00000454855
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 -70) |
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 375 / 375
chromosome 1
strand 1
last intron/exon boundary 2659
theoretical NMD boundary in CDS 2234
length of CDS 2526
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 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 RGVALLARAM VQYSCQELCR
ILYLLIPLLE RGDEKHRITA TAFFVELLQM EQVRRIPEEY SLGRMAEGLS HHDPIMKVLS
IRGLVILARR SEKTAKVKAL LPSMVKGLKN MDGMLVVEAV HNLKAVFKGR DQKLMDSAVY
VEMLQILLPH FSDAREVVRS SCINLYGKVV QKLRAPRTQA MEEQLVSTLV PLLLTMQEGN
SKVSQKCVKT LLRCSYFMAW ELPKRAYSRK PWDNQQQTVA KICKCLVNTH RDSAFIFLSQ
SLEYAKNSRA SLRKCSVMFI GSLVPCMESI MTEDRLNEVK AALDNLRHDP EASVCIYAAQ
VQDHILASCW QNSWLPHGNS WVCYSATTHR WSPSCENLPT SHQRRSWIMQ ALGSWKMSLK
K*
mutated AA sequence N/A
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