Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999979760529048 (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) chr20:43933021G>TN/A show variant in all transcripts   IGV
HGNC symbol MATN4
Ensembl transcript ID ENST00000372751
Genbank transcript ID N/A
UniProt peptide O95460
alteration type single base exchange
alteration region intron
DNA changes g.4149C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2072788
databasehomozygous (T/T)heterozygousallele carriers
1000G4949941488
ExAC66831940126084
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2540.146
0.6870.162
(flanking)-0.0040.177
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained41490.31mu: GCGCCAGCGGCATTG GCCA|gcgg
distance from splice site 870
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
34213DOMAINVWFA 1.might get lost (downstream of altered splice site)
6969CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
173173CONFLICTV -> L (in Ref. 2; BAC11083).might get lost (downstream of altered splice site)
215255DOMAINEGF-like 1; incomplete.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
226226DISULFIDBy similarity.might get lost (downstream of altered splice site)
230230DISULFIDBy similarity.might get lost (downstream of altered splice site)
239239DISULFIDBy similarity.might get lost (downstream of altered splice site)
241241DISULFIDBy similarity.might get lost (downstream of altered splice site)
251251CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
254254DISULFIDBy similarity.might get lost (downstream of altered splice site)
256292DOMAINEGF-like 2.might get lost (downstream of altered splice site)
260260DISULFIDBy similarity.might get lost (downstream of altered splice site)
267267DISULFIDBy similarity.might get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
280280DISULFIDBy similarity.might get lost (downstream of altered splice site)
282282DISULFIDBy similarity.might get lost (downstream of altered splice site)
295295DISULFIDBy similarity.might get lost (downstream of altered splice site)
297337DOMAINEGF-like 3.might get lost (downstream of altered splice site)
301301DISULFIDBy similarity.might get lost (downstream of altered splice site)
305305CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
308308DISULFIDBy similarity.might get lost (downstream of altered splice site)
312312DISULFIDBy similarity.might get lost (downstream of altered splice site)
321321DISULFIDBy similarity.might get lost (downstream of altered splice site)
323323DISULFIDBy similarity.might get lost (downstream of altered splice site)
336336DISULFIDBy similarity.might get lost (downstream of altered splice site)
342342DISULFIDBy similarity.might get lost (downstream of altered splice site)
342377DOMAINEGF-like 4.might get lost (downstream of altered splice site)
349349DISULFIDBy similarity.might get lost (downstream of altered splice site)
353353DISULFIDBy similarity.might get lost (downstream of altered splice site)
362362DISULFIDBy similarity.might get lost (downstream of altered splice site)
364364DISULFIDBy similarity.might get lost (downstream of altered splice site)
377377DISULFIDBy similarity.might get lost (downstream of altered splice site)
386561DOMAINVWFA 2.might get lost (downstream of altered splice site)
563563CONFLICTG -> S (in Ref. 2; BAC11083).might get lost (downstream of altered splice site)
591622COILEDPotential.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 188 / 188
chromosome 20
strand -1
last intron/exon boundary 1427
theoretical NMD boundary in CDS 1189
length of CDS 1299
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)		 4149
chromosomal position
(for ins/del: last normal base / first normal base)		 43933021
original gDNA sequence snippet TGGCGGCACAGGCGCGCGCCCGCGGCATTGAAATTTACGCG
altered gDNA sequence snippet TGGCGGCACAGGCGCGCGCCAGCGGCATTGAAATTTACGCG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MRGLLCWPVL LLLLQPWETQ LQLTGKDQCA EGGHGCQHQC VNAWAMFHCT CNPGYKLAAD
NKSCLAIDLC AEGTHGCEHH CVNSPGSYFC HCQVGFVLQQ DQRSCRAIDY CSFGNHSCQH
ECVSTPGGPR CHCREGHDLQ PDGRSCQVRD LCNGVDHGCE FQCVSEGLSY RCLCPEGRQL
QADGKSCNRC REGHVDLVLL VDGSKSVRPQ NFELVKRFVN QIVDFLDVSP EGTRVGLVQF
SSRVRTEFPL GRYGTAAEVK QAVLAVEYME RGTMTGLALR HMVEHSFSEA QGARPRALNV
PRVGLVFTDG RSQDDISVWA ARAKEEGIVM YAVGVGKAVE AELREIASEP AELHVSYAPD
FGTMTHLLEN LRGSICPEEG ISAGTELRSP CECESLVEFQ GRTLGALESL TLNLAQLTAR
LEDLENQLAN QK*
mutated AA sequence N/A
speed 0.99 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