Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999996 (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) chr2:219903258T>GN/A show variant in all transcripts   IGV
HGNC symbol CFAP65
Ensembl transcript ID ENST00000409865
Genbank transcript ID N/A
UniProt peptide Q6ZU64
alteration type single base exchange
alteration region CDS
DNA changes c.163A>C
cDNA.167A>C
g.2992A>C
AA changes M55L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 55
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? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      55QSAPFGLCPKDMMLTQAPSSVVRS
mutated  all conserved    55QSAPFGLCPKDLMLTQA
Ptroglodytes  all conserved  ENSPTRG00000012937  66QSAPFGLCPKGLMLTQAPSSIVR
Mmulatta  all conserved  ENSMMUG00000000783  66QSAPFGLCPKGLMLTQAPSSIMR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000047021  1MLIQKNQCHITR
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2355 / 2355
position (AA) of stopcodon in wt / mu AA sequence 785 / 785
position of stopcodon in wt / mu cDNA 2359 / 2359
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 5 / 5
chromosome 2
strand -1
last intron/exon boundary 1823
theoretical NMD boundary in CDS 1768
length of CDS 2355
coding sequence (CDS) position 163
cDNA position
(for ins/del: last normal base / first normal base)		 167
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 METAIWRRSY ISLISSERPV HNWRGKSVQK KQAESKSQIK LHTQSAPFGL CPKDMMLTQA
PSSVVRSRNS RNHTVNSGGS CLSASTVAIP AINDSSAAMS ACSTISAQPA SSMDTQMHSP
KKQERVNKRV IWGIEVAEEL HWKGWELGKE TTRNLVLKNR SLKLQKMKYR PPKTKFFFTV
IPQPIFLSPG ITLTLPIVFR PLEAKEYMDQ LWFEKAEGMF CVGLRATLPC HRLICRPPSL
QLPMCAVGDT TEAFFCLDNV GDLPTFFTWE FSSPFQMLPA TGLLEPGQAS QIKVTFQPLT
AVIYEVQATC WYGAGSRQRS SIQLQAVAKC AQLLVSIKHK CPEDQDAEGF QKLLYFGSVA
VGCTSERQIR LHNPSAVNAP FRIEISPDEL AEDQAFSCPT AHGIVLPGEK KCVSVFFHPK
TLDTRTVDYC SIMPSGCASK TLLKVVGFCR GPAVSLQHYC VNFSWVNLGE RSEQPLWIEN
QSDCTAHFQF AIDCLESVFT IRPAFGTLVG KARMTLHCAF QPTHPIICFR RVACLIHHQD
PLFLDLMGTC HSDSTKPAIL KPQHLTWYRT HLARGLTLYP PDILDAMLKE KKLAQDQNGA
LMIPIQDLED MPAPQYPYIP PMTEFFFDGT SDITIFPPPI SVEPVEVDFG ACPGPEAPNP
VPLCLMNHTK GKIMVVWTRR SDCPFWVTPE SCDVPPLKSM AMRLHFQPPH PNCLYTVELE
AFAIYKVCAR NEREECGVSA RSLSGLVGWQ EVTEGSFRLH PLRARLSLGW TVTPMSLSPP
KLLA*
mutated AA sequence METAIWRRSY ISLISSERPV HNWRGKSVQK KQAESKSQIK LHTQSAPFGL CPKDLMLTQA
PSSVVRSRNS RNHTVNSGGS CLSASTVAIP AINDSSAAMS ACSTISAQPA SSMDTQMHSP
KKQERVNKRV IWGIEVAEEL HWKGWELGKE TTRNLVLKNR SLKLQKMKYR PPKTKFFFTV
IPQPIFLSPG ITLTLPIVFR PLEAKEYMDQ LWFEKAEGMF CVGLRATLPC HRLICRPPSL
QLPMCAVGDT TEAFFCLDNV GDLPTFFTWE FSSPFQMLPA TGLLEPGQAS QIKVTFQPLT
AVIYEVQATC WYGAGSRQRS SIQLQAVAKC AQLLVSIKHK CPEDQDAEGF QKLLYFGSVA
VGCTSERQIR LHNPSAVNAP FRIEISPDEL AEDQAFSCPT AHGIVLPGEK KCVSVFFHPK
TLDTRTVDYC SIMPSGCASK TLLKVVGFCR GPAVSLQHYC VNFSWVNLGE RSEQPLWIEN
QSDCTAHFQF AIDCLESVFT IRPAFGTLVG KARMTLHCAF QPTHPIICFR RVACLIHHQD
PLFLDLMGTC HSDSTKPAIL KPQHLTWYRT HLARGLTLYP PDILDAMLKE KKLAQDQNGA
LMIPIQDLED MPAPQYPYIP PMTEFFFDGT SDITIFPPPI SVEPVEVDFG ACPGPEAPNP
VPLCLMNHTK GKIMVVWTRR SDCPFWVTPE SCDVPPLKSM AMRLHFQPPH PNCLYTVELE
AFAIYKVCAR NEREECGVSA RSLSGLVGWQ EVTEGSFRLH PLRARLSLGW TVTPMSLSPP
KLLA*
speed 1.32 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