Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0112980317413134 (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) chr11:122738261A>GN/A show variant in all transcripts   IGV
HGNC symbol CRTAM
Ensembl transcript ID ENST00000533709
Genbank transcript ID N/A
UniProt peptide O95727
alteration type single base exchange
alteration region CDS
DNA changes c.365A>G
cDNA.471A>G
g.29054A>G
AA changes K122R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 122
frameshift no
known variant Reference ID: rs2272094
databasehomozygous (G/G)heterozygousallele carriers
1000G84510661911
ExAC27763-227595004
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.1190.931
-0.260.92
(flanking)0.5630.964
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost29055sequence motif lost- wt: AAAG|gtca
 mu: AGAG.gtca
Donor marginally increased29046wt: 0.5646 / mu: 0.6187 (marginal change - not scored)wt: GTGATATGGAAGAAA
mu: GTGATATGGAAGAGA		 GATA|tgga
Donor marginally decreased29055wt: 0.9212 / mu: 0.8589 (marginal change - not scored)wt: AAGAAAGGTCAGTGG
mu: AAGAGAGGTCAGTGG		 GAAA|ggtc
Donor marginally increased29051wt: 0.9975 / mu: 0.9977 (marginal change - not scored)wt: ATGGAAGAAAGGTCA
mu: ATGGAAGAGAGGTCA		 GGAA|gaaa
Donor gained290480.97mu: GATATGGAAGAGAGG TATG|gaag
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      122MKLRKAHVIWKKENEVSEHTLESY
mutated  all conserved    122KRENEVSEHTLES
Ptroglodytes  all identical  ENSPTRG00000004401  321MKLRKAHVIWKKENEVS
Mmulatta  all identical  ENSMMUG00000002922  321MKLRKAHVIWKKENEVS
Fcatus  not conserved  ENSFCAG00000001126  315XXXXXXXXXXXXXNEIS
Mmusculus  all identical  ENSMUSG00000032021  316MKLRKAHVVWKKESEIS
Ggallus  all conserved  ENSGALG00000006527  368KKLIKAHGVWKRENDTSD
Trubripes  all identical  ENSTRUG00000005228  341IKLRRAHVAWKKENEDSDPSEES
Drerio  all identical  ENSDARG00000089327  357IRLRKTHIAWKKENEESDQSVES
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000003896  236AHAEWKKENETSDQTLES
protein features
start (aa)end (aa)featuredetails 
18287TOPO_DOMExtracellular (Potential).lost
118210DOMAINIg-like C2-type.lost
141141DISULFIDBy similarity.might get lost (downstream of altered splice site)
178178CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
196196DISULFIDBy similarity.might get lost (downstream of altered splice site)
288308TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
309393TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
315315CONFLICTA -> T (in Ref. 3; AAH70266).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 585 / 585
position (AA) of stopcodon in wt / mu AA sequence 195 / 195
position of stopcodon in wt / mu cDNA 691 / 691
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 107 / 107
chromosome 11
strand 1
last intron/exon boundary 561
theoretical NMD boundary in CDS 404
length of CDS 585
coding sequence (CDS) position 365
cDNA position
(for ins/del: last normal base / first normal base)		 471
gDNA position
(for ins/del: last normal base / first normal base)		 29054
chromosomal position
(for ins/del: last normal base / first normal base)		 122738261
original gDNA sequence snippet AGCACATGTGATATGGAAGAAAGGTCAGTGGGCAGGGAACC
altered gDNA sequence snippet AGCACATGTGATATGGAAGAGAGGTCAGTGGGCAGGGAACC
original cDNA sequence snippet AGCACATGTGATATGGAAGAAAGAAAACGAAGTTTCAGAAC
altered cDNA sequence snippet AGCACATGTGATATGGAAGAGAGAAAACGAAGTTTCAGAAC
wildtype AA sequence MWVKLLSIVA EFCFSPFLVT DEETASDALE RNSLSSQDPQ QPTSTVSVTE DSSTSEIDKE
EKEQTTQDPD LTTEANPQYL GLARKKSGIL LLTLVSFLIF ILFIIVQLFI MKLRKAHVIW
KKENEVSEHT LESYRSRSNN EETSSEEKNG QSSHPMRCMN YITKLYSEAK TKRKENVQHS
KLEEKHIQVP ESIV*
mutated AA sequence MWVKLLSIVA EFCFSPFLVT DEETASDALE RNSLSSQDPQ QPTSTVSVTE DSSTSEIDKE
EKEQTTQDPD LTTEANPQYL GLARKKSGIL LLTLVSFLIF ILFIIVQLFI MKLRKAHVIW
KRENEVSEHT LESYRSRSNN EETSSEEKNG QSSHPMRCMN YITKLYSEAK TKRKENVQHS
KLEEKHIQVP ESIV*
speed 0.16 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