Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00328438011778205 (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) chr9:135374764G>AN/A show variant in all transcripts   IGV
HGNC symbol CFAP77
Ensembl transcript ID ENST00000343036
Genbank transcript ID NM_207417
UniProt peptide Q6ZQR2
alteration type single base exchange
alteration region CDS
DNA changes c.409G>A
cDNA.457G>A
g.89335G>A
AA changes G137R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 137
frameshift no
known variant Reference ID: rs7047726
databasehomozygous (A/A)heterozygousallele carriers
1000G149635784
ExAC16171201913636
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2570.54
3.9780.998
(flanking)3.9781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased89326wt: 0.3157 / mu: 0.3255 (marginal change - not scored)wt: CCGTGGGTCTCTCCCTGCCCTCAGCCATCGGACGCTGGAAC
mu: CCGTGGGTCTCTCCCTGCCCTCAGCCATCAGACGCTGGAAC		 ccct|CAGC
Acc marginally decreased89329wt: 0.7579 / mu: 0.7311 (marginal change - not scored)wt: TGGGTCTCTCCCTGCCCTCAGCCATCGGACGCTGGAACGTG
mu: TGGGTCTCTCCCTGCCCTCAGCCATCAGACGCTGGAACGTG		 tcag|CCAT
Acc marginally increased89335wt: 0.8551 / mu: 0.8717 (marginal change - not scored)wt: TCTCCCTGCCCTCAGCCATCGGACGCTGGAACGTGTTCAAG
mu: TCTCCCTGCCCTCAGCCATCAGACGCTGGAACGTGTTCAAG		 atcg|GACG
Acc marginally increased89332wt: 0.5791 / mu: 0.6016 (marginal change - not scored)wt: GTCTCTCCCTGCCCTCAGCCATCGGACGCTGGAACGTGTTC
mu: GTCTCTCCCTGCCCTCAGCCATCAGACGCTGGAACGTGTTC		 gcca|TCGG
Donor marginally increased89328wt: 0.7208 / mu: 0.7385 (marginal change - not scored)wt: CCCTCAGCCATCGGA
mu: CCCTCAGCCATCAGA		 CTCA|gcca
Donor gained893350.40mu: CCATCAGACGCTGGA ATCA|gacg
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      137RGLDGGVPEAIGRWNVFKQQPTCP
mutated  not conserved    137RGLDGGVPEAIRRWNVFKQQPTC
Ptroglodytes  all identical  ENSPTRG00000021497  137RGLDGGVPEAIGRWNVFKQQPTC
Mmulatta  all identical  ENSMMUG00000004588  72RGLDGGVPEAIGRWNVFKQQPTC
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000079502  101RGLDGGVPEAIGHWNVFKQQPTC
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000068122  57TVQDGGVQEAISNWHTHTMSTT-
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 963 / 963
position (AA) of stopcodon in wt / mu AA sequence 321 / 321
position of stopcodon in wt / mu cDNA 1011 / 1011
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 49 / 49
chromosome 9
strand 1
last intron/exon boundary 889
theoretical NMD boundary in CDS 790
length of CDS 963
coding sequence (CDS) position 409
cDNA position
(for ins/del: last normal base / first normal base)		 457
gDNA position
(for ins/del: last normal base / first normal base)		 89335
chromosomal position
(for ins/del: last normal base / first normal base)		 135374764
original gDNA sequence snippet TCTCCCTGCCCTCAGCCATCGGACGCTGGAACGTGTTCAAG
altered gDNA sequence snippet TCTCCCTGCCCTCAGCCATCAGACGCTGGAACGTGTTCAAG
original cDNA sequence snippet GAGGAGTCCCTGAAGCCATCGGACGCTGGAACGTGTTCAAG
altered cDNA sequence snippet GAGGAGTCCCTGAAGCCATCAGACGCTGGAACGTGTTCAAG
wildtype AA sequence MPEARSSGPD LTRWRKQQQP VRRTVSQVCP PPRRPLTVAD IRSGMENERL GVVRDSMFQN
PLIVKAAGPA SVGTSYSVYD SSAVQKVIPS LAGHHIKGGP QAELGKPRER SYSLPGINFN
YGLYIRGLDG GVPEAIGRWN VFKQQPTCPH ELTRNYIAMN RGAVKAGLVT ARENLLYRQL
NDIRISDQDD RRMKKEPPPL PPNMTFGIRA RPSTPFFDLL QHRYLQLWVQ EQKATQKAIK
LEKKQKVVLG KLYETRSSQL RKYKPPVKLD TLWHMPHFQK VGRHLDTFPT EADRQRALKA
HREECAVRQG TLRMGNYTHP *
mutated AA sequence MPEARSSGPD LTRWRKQQQP VRRTVSQVCP PPRRPLTVAD IRSGMENERL GVVRDSMFQN
PLIVKAAGPA SVGTSYSVYD SSAVQKVIPS LAGHHIKGGP QAELGKPRER SYSLPGINFN
YGLYIRGLDG GVPEAIRRWN VFKQQPTCPH ELTRNYIAMN RGAVKAGLVT ARENLLYRQL
NDIRISDQDD RRMKKEPPPL PPNMTFGIRA RPSTPFFDLL QHRYLQLWVQ EQKATQKAIK
LEKKQKVVLG KLYETRSSQL RKYKPPVKLD TLWHMPHFQK VGRHLDTFPT EADRQRALKA
HREECAVRQG TLRMGNYTHP *
speed 0.55 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