Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999983 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • Kozak consensus sequence changed
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
  • start ATG shifted
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:219903258T>GN/A show variant in all transcripts   IGV
HGNC symbol CFAP65
Ensembl transcript ID ENST00000295729
Genbank transcript ID NM_152389
UniProt peptide Q6ZU64
alteration type single base exchange
alteration region CDS
alteration spans start ATG, i.e. might be located in 5'UTR and CDS
DNA changes c.1A>C
cDNA.125A>C
g.2992A>C
AA changes M1? initiating Methionine lost
possible effect: activation of potential downstream translation initiation site with same reading frame resulting in shortened AA sequence, 1 AA at beginning of AA sequence are missing
M1- Score: - explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1-1
frameshift no
known variant Reference ID: rs6736922
databasehomozygous (G/G)heterozygousallele carriers
1000G92111102031
ExAC30220-276732547
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.590
-0.7660
(flanking)-0.1020
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2987wt: 0.60 / mu: 0.67wt: TCCCTTTGGACTGTGTCCCAAGGACATGATGCTCACCCAGG
mu: TCCCTTTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGG		 ccaa|GGAC
Donor increased2991wt: 0.24 / mu: 0.48wt: AAGGACATGATGCTC
mu: AAGGACCTGATGCTC		 GGAC|atga
distance from splice site 43
Kozak consensus sequence altered? yes
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1 MMLTQAPSSVVRS
mutated  not conserved    0 MLTQAPSSVVRSRNSRNHTVN
Ptroglodytes  all conserved  ENSPTRG00000012937  66 LMLTQAPSSIVRSRNSRNHTMN
Mmulatta  all conserved  ENSMMUG00000000783  66 LMLTQAPSSIMRSRNSRDHTVN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000047021  1 MLIQKNQCHITRTRENCDCTMN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000006863  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000013869  n/a
protein features
start (aa)end (aa)featuredetails 
129129CONFLICTH -> R (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
188208TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320320CONFLICTT -> A (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
665665CONFLICTG -> W (in Ref. 1; BAC86878).might get lost (downstream of altered splice site)
877986DOMAINMSP.might get lost (downstream of altered splice site)
15251550COILEDPotential.might get lost (downstream of altered splice site)
15741574MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
17611848COMPBIASGlu-rich.might get lost (downstream of altered splice site)
length of protein delayed start of translation
AA sequence altered yes
position of stopcodon in wt / mu CDS 495 / 492
position (AA) of stopcodon in wt / mu AA sequence 165 / 164
position of stopcodon in wt / mu cDNA 619 / 616
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 125 / 128
chromosome 2
strand -1
last intron/exon boundary 287
theoretical NMD boundary in CDS 112
length of CDS 495
coding sequence (CDS) position 1
cDNA position
(for ins/del: last normal base / first normal base)		 125
gDNA position
(for ins/del: last normal base / first normal base)		 2992
chromosomal position
(for ins/del: last normal base / first normal base)		 219903258
original gDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered gDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
original cDNA sequence snippet TTGGACTGTGTCCCAAGGACATGATGCTCACCCAGGCTCCA
altered cDNA sequence snippet TTGGACTGTGTCCCAAGGACCTGATGCTCACCCAGGCTCCA
wildtype AA sequence MMLTQAPSSV VRSRNSRNHT VNSGGSCLSA STVAIPAIND SSAAMSACST ISAQPASSMD
TQMHSPKKQE RVNKRVIWGI EVAEELHWKG WELGKETTRN LVLKNRSLKL QKMKYRYQYK
GSRTQCHSLE PRKQALFKTK QNKQKKPLTC HIKASECLKY VQYE*
mutated AA sequence MLTQAPSSVV RSRNSRNHTV NSGGSCLSAS TVAIPAINDS SAAMSACSTI SAQPASSMDT
QMHSPKKQER VNKRVIWGIE VAEELHWKGW ELGKETTRNL VLKNRSLKLQ KMKYRYQYKG
SRTQCHSLEP RKQALFKTKQ NKQKKPLTCH IKASECLKYV QYE*
speed 0.93 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