Yum, tasty mutations...

mutation t@sting

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Prediction

polymorphism

Model: without_aae, prob: 0.999972551862149 (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) chr12:65150485C>TN/A show variant in all transcripts   IGV
HGNC symbol GNS
Ensembl transcript ID ENST00000258145
Genbank transcript ID NM_002076
UniProt peptide P15586
alteration type single base exchange
alteration region intron
DNA changes g.2743G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs2620733
databasehomozygous (T/T)heterozygousallele carriers
1000G15267932319
ExAC226723544621
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0660.103
-0.0670.013
(flanking)0.1330.005
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased2743wt: 0.9982 / mu: 0.9992 (marginal change - not scored)wt: AGCTAGGACAAGAGC
mu: AGCTAAGACAAGAGC
 CTAG|gaca
Donor increased2738wt: 0.91 / mu: 1.00wt: GGAAGAGCTAGGACA
mu: GGAAGAGCTAAGACA
 AAGA|gcta
Donor marginally increased2745wt: 0.8438 / mu: 0.9211 (marginal change - not scored)wt: CTAGGACAAGAGCAT
mu: CTAAGACAAGAGCAT
 AGGA|caag
distance from splice site 2380
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
9191MOD_RES3-oxoalanine (Cys) (By similarity).might get lost (downstream of altered splice site)
9191METALCalcium; via 3-oxoalanine (By similarity).might get lost (downstream of altered splice site)
111111CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
117117CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
183183CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
198198CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
210210CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
252252CONFLICTF -> C (in Ref. 2; BAD97204).might get lost (downstream of altered splice site)
279279CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
317317CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
326326METALCalcium (By similarity).might get lost (downstream of altered splice site)
327327METALCalcium (By similarity).might get lost (downstream of altered splice site)
362362CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
387387CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
405405CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
422422CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
449449CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
480480CARBOHYDN-linked (GlcNAc...) (Potential).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 172 / 172
chromosome 12
strand -1
last intron/exon boundary 1752
theoretical NMD boundary in CDS 1530
length of CDS 1659
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)
2743
chromosomal position
(for ins/del: last normal base / first normal base)
65150485
original gDNA sequence snippet GACTCCAAGGGGAAGAGCTAGGACAAGAGCATTTGAGAACT
altered gDNA sequence snippet GACTCCAAGGGGAAGAGCTAAGACAAGAGCATTTGAGAACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MRLLPLAPGR LRRGSPRHLP SCSPALLLLV LGGCLGVFGV AAGTRRPNVV LLLTDDQDEV
LGGMTPLKKT KALIGEMGMT FSSAYVPSAL CCPSRASILT GKYPHNHHVV NNTLEGNCSS
KSWQKIQEPN TFPAILRSMC GYQTFFAGKY LNEYGAPDAG GLEHVPLGWS YWYALEKNSK
YYNYTLSING KARKHGENYS VDYLTDVLAN VSLDFLDYKS NFEPFFMMIA TPAPHSPWTA
APQYQKAFQN VFAPRNKNFN IHGTNKHWLI RQAKTPMTNS SIQFLDNAFR KRWQTLLSVD
DLVEKLVKRL EFTGELNNTY IFYTSDNGYH TGQFSLPIDK RQLYEFDIKV PLLVRGPGIK
PNQTSKMLVA NIDLGPTILD IAGYDLNKTQ MDGMSLLPIL RGASNLTWRS DVLVEYQGEG
RNVTDPTCPS LSPGVSQCFP DCVCEDAYNN TYACVRTMSA LWNLQYCEFD DQEVFVEVYN
LTADPDQITN IAKTIDPELL GKMNYRLMML QSCSGPTCRT PGVFDPGYRF DPRLMFSNRG
SVRTRRFSKH LL*
mutated AA sequence N/A
speed 0.85 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