Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999939414063897 (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) chr10:82363404A>GN/A show variant in all transcripts   IGV
HGNC symbol SH2D4B
Ensembl transcript ID ENST00000339284
Genbank transcript ID NM_207372
UniProt peptide Q5SQS7
alteration type single base exchange
alteration region CDS
DNA changes c.713A>G
cDNA.1143A>G
g.65747A>G
AA changes H238R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 238
frameshift no
known variant Reference ID: rs7075840
databasehomozygous (G/G)heterozygousallele carriers
1000G36410781442
ExAC44252021824643
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0370.999
2.9411
(flanking)0.4241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased65738wt: 0.21 / mu: 0.34wt: GGACGAGTACCGACA
mu: GGACGAGTACCGACG		 ACGA|gtac
Donor gained657410.64mu: CGAGTACCGACGCCA AGTA|ccga
Donor gained657460.46mu: ACCGACGCCACTCGC CGAC|gcca
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      238RRAQRARDEYRHHSLRAIQKGTVA
mutated  not conserved    238RRAQRARDEYRRHS
Ptroglodytes  not conserved  ENSPTRG00000002687  237RRAQRARDEYRRHS
Mmulatta  not conserved  ENSMMUG00000022098  237RRAQRARDEYRRHS
Fcatus  not conserved  ENSFCAG00000000713  235RRSQRARNE-RRHS
Mmusculus  not conserved  ENSMUSG00000037833  237RRAQRARDEYRRHS
Ggallus  not conserved  ENSGALG00000002370  237HKARRARDEYRRQS
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000069374  231RKACWARDEYKRQSLRAIEKGHV
Dmelanogaster  no homologue    
Celegans  all identical  F13B12.6  331ELAQKARE--KHQQMIRTSESIL
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
325417DOMAINSH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1074 / 1074
position (AA) of stopcodon in wt / mu AA sequence 358 / 358
position of stopcodon in wt / mu cDNA 1504 / 1504
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 431 / 431
chromosome 10
strand 1
last intron/exon boundary 1416
theoretical NMD boundary in CDS 935
length of CDS 1074
coding sequence (CDS) position 713
cDNA position
(for ins/del: last normal base / first normal base)		 1143
gDNA position
(for ins/del: last normal base / first normal base)		 65747
chromosomal position
(for ins/del: last normal base / first normal base)		 82363404
original gDNA sequence snippet CGCCCGGGACGAGTACCGACACCACTCGCTCCGTGCTATCC
altered gDNA sequence snippet CGCCCGGGACGAGTACCGACGCCACTCGCTCCGTGCTATCC
original cDNA sequence snippet CGCCCGGGACGAGTACCGACACCACTCGCTCCGTGCTATCC
altered cDNA sequence snippet CGCCCGGGACGAGTACCGACGCCACTCGCTCCGTGCTATCC
wildtype AA sequence MLQQILHDMY IDPELLAELS DVQKHILFYK MREEQLRRWK ERETWEALAQ DEGLRPPKTK
RAASDKHIQW LLGADGEVWV WIMGEGPGDK PYEEISEELI AERARLQAQR EAEELWRQKE
AEITKKFRDA LANEKARILA EKWKVEMEDR KAAKVLEERI HEEFKRKEEE ERKRGEEQIR
LQEEQRAKEL YWTLKQAQLH CQASEKEERE WEEQLRRSKA ADEERSRRAQ RARDEYRHHS
LRAIQKGTVA GLSSMFRELG QSHEQEARLY HHLPDPGLPQ PLALPVRTWE RPLRPVSRDV
IVRWFKEEQL PRRAGFERNT KFIAPWFHGG NYHCFRRRVT SGTLRTEGQP TRLPSVV*
mutated AA sequence MLQQILHDMY IDPELLAELS DVQKHILFYK MREEQLRRWK ERETWEALAQ DEGLRPPKTK
RAASDKHIQW LLGADGEVWV WIMGEGPGDK PYEEISEELI AERARLQAQR EAEELWRQKE
AEITKKFRDA LANEKARILA EKWKVEMEDR KAAKVLEERI HEEFKRKEEE ERKRGEEQIR
LQEEQRAKEL YWTLKQAQLH CQASEKEERE WEEQLRRSKA ADEERSRRAQ RARDEYRRHS
LRAIQKGTVA GLSSMFRELG QSHEQEARLY HHLPDPGLPQ PLALPVRTWE RPLRPVSRDV
IVRWFKEEQL PRRAGFERNT KFIAPWFHGG NYHCFRRRVT SGTLRTEGQP TRLPSVV*
speed 1.31 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