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 ENST00000453220
Genbank transcript ID N/A
UniProt peptide Q6ZU64
alteration type single base exchange
alteration region CDS
DNA changes c.196A>C
cDNA.205A>C
g.2992A>C
AA changes M66L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 66
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      66QSAPFGLCPKDMMLTQAPSSVVRS
mutated  all conserved    66LCPKDLMLTQAPSSVVR
Ptroglodytes  all conserved  ENSPTRG00000012937  66LCPKGLMLTQAPSSIVR
Mmulatta  all conserved  ENSMMUG00000000783  66LCPKGLMLTQAPSSIMR
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 5778 / 5778
position (AA) of stopcodon in wt / mu AA sequence 1926 / 1926
position of stopcodon in wt / mu cDNA 5787 / 5787
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 10 / 10
chromosome 2
strand -1
last intron/exon boundary 5703
theoretical NMD boundary in CDS 5643
length of CDS 5778
coding sequence (CDS) position 196
cDNA position
(for ins/del: last normal base / first normal base)		 205
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 MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG
LCPKDMMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP
ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY
RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP
CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG
FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE
KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG
ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF
RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF
GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP
HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD
VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC
TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM
WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG
NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY
SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL
ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS
HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI
YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK
TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL
SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR
TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA
HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT
TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED
GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ
EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL
PTDLP*
mutated AA sequence MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG
LCPKDLMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP
ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY
RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP
CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG
FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE
KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG
ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF
RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF
GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP
HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD
VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC
TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM
WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG
NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY
SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL
ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS
HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI
YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK
TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL
SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR
TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA
HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT
TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED
GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ
EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL
PTDLP*
speed 1.14 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