Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999777299 (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) chr22:44083442T>CN/A show variant in all transcripts   IGV
HGNC symbol EFCAB6
Ensembl transcript ID ENST00000396231
Genbank transcript ID NM_198856
UniProt peptide Q5THR3
alteration type single base exchange
alteration region CDS
DNA changes c.595A>G
cDNA.860A>G
g.124776A>G
AA changes T199A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 199
frameshift no
known variant Reference ID: rs5764214
databasehomozygous (C/C)heterozygousallele carriers
1000G46611501616
ExAC112381029121529
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7850
-0.8330.001
(flanking)0.1150.161
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 increased124769wt: 0.9174 / mu: 0.9244 (marginal change - not scored)wt: CTTAAAGCCACCACT
mu: CTTAAAGCCACCGCT		 TAAA|gcca
Donor gained1247750.95mu: GCCACCGCTAAAATC CACC|gcta
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      199QLMKRFGLKATTKINWKQFLTSFH
mutated  not conserved    199QLMKRFGLKATAKINWKQFLTSF
Ptroglodytes  all identical  ENSPTRG00000014475  351QLMKRFGLKATTKINWKQFLTSF
Mmulatta  all identical  ENSMMUG00000005769  199QLMKRFGLKATTKINWKKFLTSF
Fcatus  not conserved  ENSFCAG00000007339  351QLMKRFGLKTTARVNWKQFLTSF
Mmusculus  all identical  ENSMUSG00000022441  375IRRFGLKTSTKINWKQFLTAI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000020735  367ELLKRFGVSNTEPVKWKIFLGLF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000004863  373KLMNRLAIKCTDRIGWEQFLRRF
protein features
start (aa)end (aa)featuredetails 
172207DOMAINEF-hand 2.lost
283283MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
297332DOMAINEF-hand 3.might get lost (downstream of altered splice site)
403438DOMAINEF-hand 4.might get lost (downstream of altered splice site)
439474DOMAINEF-hand 5.might get lost (downstream of altered splice site)
478478CONFLICTS -> P (in Ref. 2; BAF85187).might get lost (downstream of altered splice site)
504539DOMAINEF-hand 6.might get lost (downstream of altered splice site)
634669DOMAINEF-hand 7.might get lost (downstream of altered splice site)
726726CONFLICTI -> V (in Ref. 2; BAF85187).might get lost (downstream of altered splice site)
741776DOMAINEF-hand 8.might get lost (downstream of altered splice site)
754765CA_BINDPotential.might get lost (downstream of altered splice site)
833833CONFLICTA -> V (in Ref. 2; BAF85187).might get lost (downstream of altered splice site)
847882DOMAINEF-hand 9.might get lost (downstream of altered splice site)
882882CONFLICTP -> S (in Ref. 2; BAF85100).might get lost (downstream of altered splice site)
883918DOMAINEF-hand 10.might get lost (downstream of altered splice site)
964999DOMAINEF-hand 11.might get lost (downstream of altered splice site)
990990CONFLICTQ -> H (in Ref. 1; BAB71780 and 2; BAB15703).might get lost (downstream of altered splice site)
10691104DOMAINEF-hand 12.might get lost (downstream of altered splice site)
10821082CONFLICTD -> G (in Ref. 5; AAH39315).might get lost (downstream of altered splice site)
11391139CONFLICTE -> G (in Ref. 2; BAF85100).might get lost (downstream of altered splice site)
11641176HELIXmight get lost (downstream of altered splice site)
11761211DOMAINEF-hand 13.might get lost (downstream of altered splice site)
11781188HELIXmight get lost (downstream of altered splice site)
11821182CONFLICTT -> P (in Ref. 2; BAF85187).might get lost (downstream of altered splice site)
11981208HELIXmight get lost (downstream of altered splice site)
12121247DOMAINEF-hand 14.might get lost (downstream of altered splice site)
12141221HELIXmight get lost (downstream of altered splice site)
12181218CONFLICTD -> G (in Ref. 5; AAH39315).might get lost (downstream of altered splice site)
12341241HELIXmight get lost (downstream of altered splice site)
13031501REGIONInteraction with PARK7.might get lost (downstream of altered splice site)
13591394DOMAINEF-hand 15.might get lost (downstream of altered splice site)
14071501REGIONInteraction with AR.might get lost (downstream of altered splice site)
14341469DOMAINEF-hand 16.might get lost (downstream of altered splice site)
14701501DOMAINEF-hand 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4050 / 4050
position (AA) of stopcodon in wt / mu AA sequence 1350 / 1350
position of stopcodon in wt / mu cDNA 4315 / 4315
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 266 / 266
chromosome 22
strand -1
last intron/exon boundary 4193
theoretical NMD boundary in CDS 3877
length of CDS 4050
coding sequence (CDS) position 595
cDNA position
(for ins/del: last normal base / first normal base)		 860
gDNA position
(for ins/del: last normal base / first normal base)		 124776
chromosomal position
(for ins/del: last normal base / first normal base)		 44083442
original gDNA sequence snippet GATTTGGACTTAAAGCCACCACTAAAATCAATTGGAAGCAA
altered gDNA sequence snippet GATTTGGACTTAAAGCCACCGCTAAAATCAATTGGAAGCAA
original cDNA sequence snippet GATTTGGACTTAAAGCCACCACTAAAATCAATTGGAAGCAA
altered cDNA sequence snippet GATTTGGACTTAAAGCCACCGCTAAAATCAATTGGAAGCAA
wildtype AA sequence MNCCRTLREL EIQVGEKVFK NIKTVMKAFE LIDVNKTGLV RPQELRRVLE TFCMKLRDEE
YEKFSKHYNI HKDTAVDYNV FLKNLSINND LNLRYCMGNQ EVSLENQQAK NSKKERLLGS
ASSEDIWRNY SLDEIERNFC LQLSKSYEKV EKALSAGDPC KGGYVSFNYL KIVLDTFVYQ
IPRRIFIQLM KRFGLKATTK INWKQFLTSF HEPQGLQVSS KGPLTKRNSI NSRNESHKEN
IITKLFRHTE DHSASLKKAL LIINTKPDGP ITREEFRYIL NCMAVKLSDS EFKELMQMLD
PGDTGVVNTS MFIDLIEENC RMRKTSPCTD AKTPFLLAWD SVEEIVHDTI TRNLQAFYNM
LRSYDLGDTG RIGRNNFKKI MHVFCPFLTN AHFIKLCSKI QDIGSGRILY KKLLACIGID
GPPTVSPVLV PKDQLLSEHL QKDEQQQPDL SERTKLTEDK TTLTKKMTTE EVIEKFKKCI
QQQDPAFKKR FLDFSKEPNG KINVHDFKKV LEDTGMPMDD DQYALLTTKI GFEKEGMSYL
DFAAGFEDPP MRGPETTPPQ PPTPSKSYVN SHFITAEECL KLFPRRLKES FRDPYSAFFK
TDADRDGIIN MHDLHRLLLH LLLNLKDDEF ERFLGLLGLR LSVTLNFREF QNLCEKRPWR
TDEAPQRLIR PKQKVADSEL ACEQAHQYLV TKAKNRWSDL SKNFLETDNE GNGILRRRDI
KNALYGFDIP LTPREFEKLW ARYDTEGKGH ITYQEFLQKL GINYSPAVHR PCAEDYFNFM
GHFTKPQQLQ EEMKELQQST EKAVAARDKL MDRHQDISKA FTKTDQSKTN YISICKMQEV
LEECGCSLTE GELTHLLNSW GVSRHDNAIN YLDFLRAVEN SKSTGAQPKE KEESMPINFA
TLNPQEAVRK IQEVVESSQL ALSTAFSALD KEDTGFVKAT EFGQVLKDFC YKLTDNQYHY
FLRKLRIHLT PYINWKYFLQ NFSCFLEETA DEWAEKMPKG PPPTSPKATA DRDILARLHK
AVTSHYHAIT QEFENFDTMK TNTISREEFR AICNRRVQIL TDEQFDRLWN EMPVNAKGRL
KYPDFLSRFS SETAATPMAT GDSAVAQRGS SVPDVSEGTR SALSLPTQEL RPGSKSQSHP
CTPASTTVIP GTPPLQNCDP IESRLRKRIQ GCWRQLLKEC KEKDVARQGD INASDFLALV
EKFNLDISKE ECQQLIIKYD LKSNGKFAYC DFIQSCVLLL KAKESSLMHR MKIQNAHKMK
EAGAETPSFY SALLRIQPKI VHCWRPMRRT FKSYDEAGTG LLSVADFRTV LRQYSINLSE
EEFFHILEYY DKTLSSKISY NDFLRAFLQ*
mutated AA sequence MNCCRTLREL EIQVGEKVFK NIKTVMKAFE LIDVNKTGLV RPQELRRVLE TFCMKLRDEE
YEKFSKHYNI HKDTAVDYNV FLKNLSINND LNLRYCMGNQ EVSLENQQAK NSKKERLLGS
ASSEDIWRNY SLDEIERNFC LQLSKSYEKV EKALSAGDPC KGGYVSFNYL KIVLDTFVYQ
IPRRIFIQLM KRFGLKATAK INWKQFLTSF HEPQGLQVSS KGPLTKRNSI NSRNESHKEN
IITKLFRHTE DHSASLKKAL LIINTKPDGP ITREEFRYIL NCMAVKLSDS EFKELMQMLD
PGDTGVVNTS MFIDLIEENC RMRKTSPCTD AKTPFLLAWD SVEEIVHDTI TRNLQAFYNM
LRSYDLGDTG RIGRNNFKKI MHVFCPFLTN AHFIKLCSKI QDIGSGRILY KKLLACIGID
GPPTVSPVLV PKDQLLSEHL QKDEQQQPDL SERTKLTEDK TTLTKKMTTE EVIEKFKKCI
QQQDPAFKKR FLDFSKEPNG KINVHDFKKV LEDTGMPMDD DQYALLTTKI GFEKEGMSYL
DFAAGFEDPP MRGPETTPPQ PPTPSKSYVN SHFITAEECL KLFPRRLKES FRDPYSAFFK
TDADRDGIIN MHDLHRLLLH LLLNLKDDEF ERFLGLLGLR LSVTLNFREF QNLCEKRPWR
TDEAPQRLIR PKQKVADSEL ACEQAHQYLV TKAKNRWSDL SKNFLETDNE GNGILRRRDI
KNALYGFDIP LTPREFEKLW ARYDTEGKGH ITYQEFLQKL GINYSPAVHR PCAEDYFNFM
GHFTKPQQLQ EEMKELQQST EKAVAARDKL MDRHQDISKA FTKTDQSKTN YISICKMQEV
LEECGCSLTE GELTHLLNSW GVSRHDNAIN YLDFLRAVEN SKSTGAQPKE KEESMPINFA
TLNPQEAVRK IQEVVESSQL ALSTAFSALD KEDTGFVKAT EFGQVLKDFC YKLTDNQYHY
FLRKLRIHLT PYINWKYFLQ NFSCFLEETA DEWAEKMPKG PPPTSPKATA DRDILARLHK
AVTSHYHAIT QEFENFDTMK TNTISREEFR AICNRRVQIL TDEQFDRLWN EMPVNAKGRL
KYPDFLSRFS SETAATPMAT GDSAVAQRGS SVPDVSEGTR SALSLPTQEL RPGSKSQSHP
CTPASTTVIP GTPPLQNCDP IESRLRKRIQ GCWRQLLKEC KEKDVARQGD INASDFLALV
EKFNLDISKE ECQQLIIKYD LKSNGKFAYC DFIQSCVLLL KAKESSLMHR MKIQNAHKMK
EAGAETPSFY SALLRIQPKI VHCWRPMRRT FKSYDEAGTG LLSVADFRTV LRQYSINLSE
EEFFHILEYY DKTLSSKISY NDFLRAFLQ*
speed 0.83 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