Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.997773624001709 (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) chr22:50315363C>AN/A show variant in all transcripts   IGV
HGNC symbol CRELD2
Ensembl transcript ID ENST00000328268
Genbank transcript ID NM_024324
UniProt peptide Q6UXH1
alteration type single base exchange
alteration region CDS
DNA changes c.546C>A
cDNA.620C>A
g.3549C>A
AA changes D182E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 182
frameshift no
known variant Reference ID: rs8139422
databasehomozygous (A/A)heterozygousallele carriers
1000G226560786
ExAC158575789163
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7680.169
-2.9180.002
(flanking)3.5260.996
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 increased3550wt: 0.6593 / mu: 0.7222 (marginal change - not scored)wt: TGGACGGCTACTTCA
mu: TGGAAGGCTACTTCA		 GACG|gcta
Donor increased3544wt: 0.41 / mu: 0.99wt: ACTGCATGGACGGCT
mu: ACTGCATGGAAGGCT		 TGCA|tgga
Donor gained35450.73mu: CTGCATGGAAGGCTA GCAT|ggaa
distance from splice site 47
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      182GYQGPLCTDCMDGYFSSLRNETHS
mutated  all conserved    182MEGYFSSLRNETH
Ptroglodytes  all identical  ENSPTRG00000014524  182MDGYFSSLRNETH
Mmulatta  all identical  ENSMMUG00000011278  182MDGYFSSLRNETH
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000023272  180TDGFFSLQRNETH
Ggallus  not conserved  ENSGALG00000008551  191DCSSGYYSSLRNETH
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000029071  182GYDGEFCLDCSDGYFNSLRNDTF
Dmelanogaster  not conserved  FBgn0031217  183GYAGPNCNECGPEHYESFRDEKK
Celegans  not conserved  F09E8.2  192NLCRYCDIEYFEESRTVQG
Xtropicalis  all identical  ENSXETG00000014527  180EYTGPFCLECADGYYSS
protein features
start (aa)end (aa)featuredetails 
193240REPEATFU 1.might get lost (downstream of altered splice site)
251251CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
253302REPEATFU 2.might get lost (downstream of altered splice site)
290331DOMAINEGF-like 2; calcium-binding (Potential).might get lost (downstream of altered splice site)
294294DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301DISULFIDBy similarity.might get lost (downstream of altered splice site)
308308DISULFIDBy similarity.might get lost (downstream of altered splice site)
317317DISULFIDBy similarity.might get lost (downstream of altered splice site)
319319DISULFIDBy similarity.might get lost (downstream of altered splice site)
330330DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1062 / 1062
position (AA) of stopcodon in wt / mu AA sequence 354 / 354
position of stopcodon in wt / mu cDNA 1136 / 1136
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 75 / 75
chromosome 22
strand 1
last intron/exon boundary 1084
theoretical NMD boundary in CDS 959
length of CDS 1062
coding sequence (CDS) position 546
cDNA position
(for ins/del: last normal base / first normal base)		 620
gDNA position
(for ins/del: last normal base / first normal base)		 3549
chromosomal position
(for ins/del: last normal base / first normal base)		 50315363
original gDNA sequence snippet CTGTGCACTGACTGCATGGACGGCTACTTCAGCTCGCTCCG
altered gDNA sequence snippet CTGTGCACTGACTGCATGGAAGGCTACTTCAGCTCGCTCCG
original cDNA sequence snippet CTGTGCACTGACTGCATGGACGGCTACTTCAGCTCGCTCCG
altered cDNA sequence snippet CTGTGCACTGACTGCATGGAAGGCTACTTCAGCTCGCTCCG
wildtype AA sequence MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC
MDGYFSSLRN ETHSICTACD ESCKTCSGLT NRDCGECEVG WVLDEGACVD VDECAAEPPP
CSAAQFCKNA NGSYTCEECD SSCVGCTGEG PGNCKECISG YAREHGQCAD VDECSLAEKT
CVRKNENCYN TPGSYVCVCP DGFEETEDAC VPPAEAEATE GESPTQLPSR EDL*
mutated AA sequence MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC
MEGYFSSLRN ETHSICTACD ESCKTCSGLT NRDCGECEVG WVLDEGACVD VDECAAEPPP
CSAAQFCKNA NGSYTCEECD SSCVGCTGEG PGNCKECISG YAREHGQCAD VDECSLAEKT
CVRKNENCYN TPGSYVCVCP DGFEETEDAC VPPAEAEATE GESPTQLPSR EDL*
speed 1.09 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