Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999865891 (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 ENST00000262726
Genbank transcript ID NM_022785
UniProt peptide Q5THR3
alteration type single base exchange
alteration region CDS
DNA changes c.1051A>G
cDNA.1305A>G
g.124776A>G
AA changes T351A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 351
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      351QLMKRFGLKATTKINWKQFLTSFH
mutated  not conserved    351QLMKRFGLKATAKINWKQFLT
Ptroglodytes  all identical  ENSPTRG00000014475  351QLMKRFGLKATTKINWKQFLT
Mmulatta  all identical  ENSMMUG00000005769  199QLMKRFGLKATTKINWKKFLTSF
Fcatus  not conserved  ENSFCAG00000007339  351QLMKRFGLKTTARVNWKQFLTSF
Mmusculus  all identical  ENSMUSG00000022441  375QLIRRFGLKTSTKINWKQF
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000020735  367ELLKRFGVSNTEPVKWKIFLGLF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000004863  373KLMNRLAIKCTDRI
protein features
start (aa)end (aa)featuredetails 
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 4506 / 4506
position (AA) of stopcodon in wt / mu AA sequence 1502 / 1502
position of stopcodon in wt / mu cDNA 4760 / 4760
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 255 / 255
chromosome 22
strand -1
last intron/exon boundary 4638
theoretical NMD boundary in CDS 4333
length of CDS 4506
coding sequence (CDS) position 1051
cDNA position
(for ins/del: last normal base / first normal base)		 1305
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 MCKMAIIPDW LRSHPHTRKF THSRPHSSPC RVYSRNGSPN KFRSSSTTAV ANPTLSSLDV
KRILFQKITD RGDELQKAFQ LLDTGQNLTV SKSELRRIIT DFLMPLTREQ FQDVLAQIPL
STSGTVPYLA FLSRFGGIDL YINGIKRGGG NEMNCCRTLR ELEIQVGEKV FKNIKTVMKA
FELIDVNKTG LVRPQELRRV LETFCMKLRD EEYEKFSKHY NIHKDTAVDY NVFLKNLSIN
NDLNLRYCMG NQEVSLENQQ AKNSKKERLL GSASSEDIWR NYSLDEIERN FCLQLSKSYE
KVEKALSAGD PCKGGYVSFN YLKIVLDTFV YQIPRRIFIQ LMKRFGLKAT TKINWKQFLT
SFHEPQGLQV SSKGPLTKRN SINSRNESHK ENIITKLFRH TEDHSASLKK ALLIINTKPD
GPITREEFRY ILNCMAVKLS DSEFKELMQM LDPGDTGVVN TSMFIDLIEE NCRMRKTSPC
TDAKTPFLLA WDSVEEIVHD TITRNLQAFY NMLRSYDLGD TGRIGRNNFK KIMHVFCPFL
TNAHFIKLCS KIQDIGSGRI LYKKLLACIG IDGPPTVSPV LVPKDQLLSE HLQKDEQQQP
DLSERTKLTE DKTTLTKKMT TEEVIEKFKK CIQQQDPAFK KRFLDFSKEP NGKINVHDFK
KVLEDTGMPM DDDQYALLTT KIGFEKEGMS YLDFAAGFED PPMRGPETTP PQPPTPSKSY
VNSHFITAEE CLKLFPRRLK ESFRDPYSAF FKTDADRDGI INMHDLHRLL LHLLLNLKDD
EFERFLGLLG LRLSVTLNFR EFQNLCEKRP WRTDEAPQRL IRPKQKVADS ELACEQAHQY
LVTKAKNRWS DLSKNFLETD NEGNGILRRR DIKNALYGFD IPLTPREFEK LWARYDTEGK
GHITYQEFLQ KLGINYSPAV HRPCAEDYFN FMGHFTKPQQ LQEEMKELQQ STEKAVAARD
KLMDRHQDIS KAFTKTDQSK TNYISICKMQ EVLEECGCSL TEGELTHLLN SWGVSRHDNA
INYLDFLRAV ENSKSTGAQP KEKEESMPIN FATLNPQEAV RKIQEVVESS QLALSTAFSA
LDKEDTGFVK ATEFGQVLKD FCYKLTDNQY HYFLRKLRIH LTPYINWKYF LQNFSCFLEE
TADEWAEKMP KGPPPTSPKA TADRDILARL HKAVTSHYHA ITQEFENFDT MKTNTISREE
FRAICNRRVQ ILTDEQFDRL WNEMPVNAKG RLKYPDFLSR FSSETAATPM ATGDSAVAQR
GSSVPDVSEG TRSALSLPTQ ELRPGSKSQS HPCTPASTTV IPGTPPLQNC DPIESRLRKR
IQGCWRQLLK ECKEKDVARQ GDINASDFLA LVEKFNLDIS KEECQQLIIK YDLKSNGKFA
YCDFIQSCVL LLKAKESSLM HRMKIQNAHK MKEAGAETPS FYSALLRIQP KIVHCWRPMR
RTFKSYDEAG TGLLSVADFR TVLRQYSINL SEEEFFHILE YYDKTLSSKI SYNDFLRAFL
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mutated AA sequence MCKMAIIPDW LRSHPHTRKF THSRPHSSPC RVYSRNGSPN KFRSSSTTAV ANPTLSSLDV
KRILFQKITD RGDELQKAFQ LLDTGQNLTV SKSELRRIIT DFLMPLTREQ FQDVLAQIPL
STSGTVPYLA FLSRFGGIDL YINGIKRGGG NEMNCCRTLR ELEIQVGEKV FKNIKTVMKA
FELIDVNKTG LVRPQELRRV LETFCMKLRD EEYEKFSKHY NIHKDTAVDY NVFLKNLSIN
NDLNLRYCMG NQEVSLENQQ AKNSKKERLL GSASSEDIWR NYSLDEIERN FCLQLSKSYE
KVEKALSAGD PCKGGYVSFN YLKIVLDTFV YQIPRRIFIQ LMKRFGLKAT AKINWKQFLT
SFHEPQGLQV SSKGPLTKRN SINSRNESHK ENIITKLFRH TEDHSASLKK ALLIINTKPD
GPITREEFRY ILNCMAVKLS DSEFKELMQM LDPGDTGVVN TSMFIDLIEE NCRMRKTSPC
TDAKTPFLLA WDSVEEIVHD TITRNLQAFY NMLRSYDLGD TGRIGRNNFK KIMHVFCPFL
TNAHFIKLCS KIQDIGSGRI LYKKLLACIG IDGPPTVSPV LVPKDQLLSE HLQKDEQQQP
DLSERTKLTE DKTTLTKKMT TEEVIEKFKK CIQQQDPAFK KRFLDFSKEP NGKINVHDFK
KVLEDTGMPM DDDQYALLTT KIGFEKEGMS YLDFAAGFED PPMRGPETTP PQPPTPSKSY
VNSHFITAEE CLKLFPRRLK ESFRDPYSAF FKTDADRDGI INMHDLHRLL LHLLLNLKDD
EFERFLGLLG LRLSVTLNFR EFQNLCEKRP WRTDEAPQRL IRPKQKVADS ELACEQAHQY
LVTKAKNRWS DLSKNFLETD NEGNGILRRR DIKNALYGFD IPLTPREFEK LWARYDTEGK
GHITYQEFLQ KLGINYSPAV HRPCAEDYFN FMGHFTKPQQ LQEEMKELQQ STEKAVAARD
KLMDRHQDIS KAFTKTDQSK TNYISICKMQ EVLEECGCSL TEGELTHLLN SWGVSRHDNA
INYLDFLRAV ENSKSTGAQP KEKEESMPIN FATLNPQEAV RKIQEVVESS QLALSTAFSA
LDKEDTGFVK ATEFGQVLKD FCYKLTDNQY HYFLRKLRIH LTPYINWKYF LQNFSCFLEE
TADEWAEKMP KGPPPTSPKA TADRDILARL HKAVTSHYHA ITQEFENFDT MKTNTISREE
FRAICNRRVQ ILTDEQFDRL WNEMPVNAKG RLKYPDFLSR FSSETAATPM ATGDSAVAQR
GSSVPDVSEG TRSALSLPTQ ELRPGSKSQS HPCTPASTTV IPGTPPLQNC DPIESRLRKR
IQGCWRQLLK ECKEKDVARQ GDINASDFLA LVEKFNLDIS KEECQQLIIK YDLKSNGKFA
YCDFIQSCVL LLKAKESSLM HRMKIQNAHK MKEAGAETPS FYSALLRIQP KIVHCWRPMR
RTFKSYDEAG TGLLSVADFR TVLRQYSINL SEEEFFHILE YYDKTLSSKI SYNDFLRAFL
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speed 0.91 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