Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999965 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:130900188A>GN/A show variant in all transcripts   IGV
HGNC symbol CCDC74B
Ensembl transcript ID ENST00000392984
Genbank transcript ID N/A
UniProt peptide Q96LY2
alteration type single base exchange
alteration region CDS
DNA changes c.368T>C
cDNA.1112T>C
g.2520T>C
AA changes V123A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 123
frameshift no
known variant Reference ID: rs28743163
databasehomozygous (G/G)heterozygousallele carriers
1000G67111911862
ExAC124634814727
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2690.001
-0.9550
(flanking)-2.3720
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 increased2525wt: 0.9267 / mu: 0.9382 (marginal change - not scored)wt: TAGCTGGGGCAGTGC
mu: CAGCTGGGGCAGTGC		 GCTG|gggc
Donor increased2521wt: 0.25 / mu: 0.83wt: ATCGTAGCTGGGGCA
mu: ATCGCAGCTGGGGCA		 CGTA|gctg
distance from splice site 483
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      123LTGGWSQPGNIVAGAVPRALPSQR
mutated  not conserved    123NIAAGAVPRALPSQ
Ptroglodytes  no alignment  ENSPTRG00000012471  n/a
Mmulatta  not conserved  ENSMMUG00000003066  116LTGIWNQPGNITAGA
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000041617  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000093026  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1449 / 1449
position (AA) of stopcodon in wt / mu AA sequence 483 / 483
position of stopcodon in wt / mu cDNA 2193 / 2193
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 745 / 745
chromosome 2
strand -1
last intron/exon boundary 2058
theoretical NMD boundary in CDS 1263
length of CDS 1449
coding sequence (CDS) position 368
cDNA position
(for ins/del: last normal base / first normal base)		 1112
gDNA position
(for ins/del: last normal base / first normal base)		 2520
chromosomal position
(for ins/del: last normal base / first normal base)		 130900188
original gDNA sequence snippet GAGCCAGCCTGGGAACATCGTAGCTGGGGCAGTGCCTAGGG
altered gDNA sequence snippet GAGCCAGCCTGGGAACATCGCAGCTGGGGCAGTGCCTAGGG
original cDNA sequence snippet GAGCCAGCCTGGGAACATCGTAGCTGGGGCAGTGCCTAGGG
altered cDNA sequence snippet GAGCCAGCCTGGGAACATCGCAGCTGGGGCAGTGCCTAGGG
wildtype AA sequence MGRNPWDSPC PARSLPQIAA VARPRISSPM ALSPDMLGAQ GLWTHSIQGS LPAIWAATMG
TKGGSRVLFP CHLSKALPHP DSGPHPAQDS GLWSRAHFPL SLGLGLTSGG HLTGGWSQPG
NIVAGAVPRA LPSQRDMENG VEGGPFPSRC GNSSELFWAK CGPSRQPQPC SAGDADRTRE
EAMLSLGTCC SMCPKPSCFP DGPSGNHLSR ASAPLGARWV CINGVWVEPG GPSPARLKEG
SSRTHRPGGK HGRLAGGSAD TVRSPADSLS TSSFQSVKSI SNSGKARPQP GSFNKQDSKA
DVPQKADLEE EPLLHNSKLD KVPGVQGQAR KEKAEASNAG AACMGNSQHQ GRQMGAAAHP
PMILPLPLRK PTTLRQCEVL IRELWNTNLL QTQELQHLKS LLEGSQRPQA VPEEASFPRD
QEATHFPKVS TKSLSKKCLL LSPPVAERAI LPALKQTPKN NFAERQKRLQ AMQKRRLHRS
VL*
mutated AA sequence MGRNPWDSPC PARSLPQIAA VARPRISSPM ALSPDMLGAQ GLWTHSIQGS LPAIWAATMG
TKGGSRVLFP CHLSKALPHP DSGPHPAQDS GLWSRAHFPL SLGLGLTSGG HLTGGWSQPG
NIAAGAVPRA LPSQRDMENG VEGGPFPSRC GNSSELFWAK CGPSRQPQPC SAGDADRTRE
EAMLSLGTCC SMCPKPSCFP DGPSGNHLSR ASAPLGARWV CINGVWVEPG GPSPARLKEG
SSRTHRPGGK HGRLAGGSAD TVRSPADSLS TSSFQSVKSI SNSGKARPQP GSFNKQDSKA
DVPQKADLEE EPLLHNSKLD KVPGVQGQAR KEKAEASNAG AACMGNSQHQ GRQMGAAAHP
PMILPLPLRK PTTLRQCEVL IRELWNTNLL QTQELQHLKS LLEGSQRPQA VPEEASFPRD
QEATHFPKVS TKSLSKKCLL LSPPVAERAI LPALKQTPKN NFAERQKRLQ AMQKRRLHRS
VL*
speed 0.54 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