Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999754448821879 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:114454544T>CN/A show variant in all transcripts   IGV
HGNC symbol SHOC1
Ensembl transcript ID ENST00000374287
Genbank transcript ID N/A
UniProt peptide Q5VXU9
alteration type single base exchange
alteration region CDS
DNA changes c.3521A>G
cDNA.3782A>G
g.102745A>G
AA changes E1174G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1174
frameshift no
known variant Reference ID: rs7869279
databasehomozygous (C/C)heterozygousallele carriers
1000G70910711780
ExAC15213234117554
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0020.648
1.6290.605
(flanking)0.1760.111
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 248
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1174LNDNSSIMELKEISSFLPPVTSYN
mutated  not conserved    1174LNDNSSIMELKGISSFLPPVTSY
Ptroglodytes  all identical  ENSPTRG00000021260  1174LNDNSSIMELKEISSFLPPVTSY
Mmulatta  all identical  ENSMMUG00000023307  1238LNDNSSIMELKEISGFLPLVTSY
Fcatus  no alignment  ENSFCAG00000004341  n/a
Mmusculus  not conserved  ENSMUSG00000038598  1230-GTSSSPVELRATPCMLPSAAPH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4335 / 4335
position (AA) of stopcodon in wt / mu AA sequence 1445 / 1445
position of stopcodon in wt / mu cDNA 4596 / 4596
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 262 / 262
chromosome 9
strand -1
last intron/exon boundary 4496
theoretical NMD boundary in CDS 4184
length of CDS 4335
coding sequence (CDS) position 3521
cDNA position
(for ins/del: last normal base / first normal base)		 3782
gDNA position
(for ins/del: last normal base / first normal base)		 102745
chromosomal position
(for ins/del: last normal base / first normal base)		 114454544
original gDNA sequence snippet TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC
altered gDNA sequence snippet TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC
original cDNA sequence snippet TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC
altered cDNA sequence snippet TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC
wildtype AA sequence MTDTSVLDQW KASFFVEDFL EKKTITRMVT QINCEFEEVV PSSNPDSQIE VEEVSLYTHM
DYNEVFTPVS CLEKCSALQN QNQDLFIDDK GILFVSSRKH LPTLPTLLSR LKLFLVKDPL
LDFKGQIFTE ANFSRECFSL QETLEAFVKE DFCMDKVNFC QEKLEDTICL NEPSSFLIEY
EFLIPPSLKP EIDIPSLSEL KELLNPVPEI INYVDEKEKL FERDLTNKHG IEDIGDIKFS
STEILTIQSQ SEPEECSKPG ELEMPLTPLF LTCQHSSVNS LRTELQTFPL SPVCKINLLT
AEESANEYYM MWQLERCRSP LNPFLLTVPR IQEPHSQYSV TDLKKIFSVK EESLVINLEK
AEWWKQAGLN LKMMETLEHL NTYLCHDNLS SNDTKIEIFL PTKVLQLESC LEHKSHSSPI
ALIDEKSTNA HLSLPQKSPS LAKEVPDLCF SDDYFSDKGA AKEEKPKNDQ EPVNRIIQKK
ENNDHFELDC TGPSIKSPSS SIIKKASFEH GKKQENDLDL LSDFIMLRNK YKTCTSKTEV
TNSDEKHDKE ACSLTLQEES PIVHINKTLE EINQERGTDS VIEIQASDSQ CQAFCLLEAA
ASPILKNLVS LCTLPTANWK FATVIFDQTR FLLKEQEKVV SDAVRQGTID EREMTFKHAA
LLHLLVTIRD VLLTCSLDTA LGYLSKAKDI YNSILGPYLG DIWRQLEIVQ FIRGKKPETN
YKIQELQCQI LSWMQSQQQI KVLIIIRMDS DGEKHFLIKI LNKIEGLTLT VLHSNERKDF
LESEGVLRGT SSCVVVHNQY IGADFPWSNF SFVVEYNYVE DSCWTKHCKE LNIPYMAFKV
ILPDTVLERS TLLDRFGGFL LEIQIPYVFF ASEGLLNTPD ILQLLESNYN ISLVERGCSE
SLKLFGSSEC YVVVTIDEHT AIILQDLEEL NYEKASDNII MRLMALSLQY RYCWIILYTK
ETLNSEYLLT EKTLHHLALI YAALVSFGLN SEELDVKLII APGVEATALI IRQIADHSLM
TSKRDPHEWL DKSWLKVSPS EEEMYLLDFP CINPLVAQLM LNKGPSLHWI LLATLCQLQE
LLPEVPEKVL KHFCSITSLF KIGSSSITKS PQISSPQENR NQISTLSSQS SASDLDSVIQ
EHNEYYQYLG LGETVQEDKT TILNDNSSIM ELKEISSFLP PVTSYNQTSY WKDSSCKSNI
GQNTPFLINI ESRRPAYNSF LNHSDSESDV FSLGLTQMNC ETIKSPTDTQ KRVSVVPRFI
NSQKRRTHEA KGFINKDVSD PIFSLEGTQS PLHWNFKKNI WEQENHPFNL QYGAQQTACN
KLYSQKGNLF TDQQKCLSDE SEGLTCESSK DETFWRELPS VPSLDLFRAS DSNANQKEFN
SLYFYQRAGK SLGQKRHHES SFNSGDKESL TGFMCSQLPQ FKKRRLAYEK VPGRVDGQTR
LRFF*
mutated AA sequence MTDTSVLDQW KASFFVEDFL EKKTITRMVT QINCEFEEVV PSSNPDSQIE VEEVSLYTHM
DYNEVFTPVS CLEKCSALQN QNQDLFIDDK GILFVSSRKH LPTLPTLLSR LKLFLVKDPL
LDFKGQIFTE ANFSRECFSL QETLEAFVKE DFCMDKVNFC QEKLEDTICL NEPSSFLIEY
EFLIPPSLKP EIDIPSLSEL KELLNPVPEI INYVDEKEKL FERDLTNKHG IEDIGDIKFS
STEILTIQSQ SEPEECSKPG ELEMPLTPLF LTCQHSSVNS LRTELQTFPL SPVCKINLLT
AEESANEYYM MWQLERCRSP LNPFLLTVPR IQEPHSQYSV TDLKKIFSVK EESLVINLEK
AEWWKQAGLN LKMMETLEHL NTYLCHDNLS SNDTKIEIFL PTKVLQLESC LEHKSHSSPI
ALIDEKSTNA HLSLPQKSPS LAKEVPDLCF SDDYFSDKGA AKEEKPKNDQ EPVNRIIQKK
ENNDHFELDC TGPSIKSPSS SIIKKASFEH GKKQENDLDL LSDFIMLRNK YKTCTSKTEV
TNSDEKHDKE ACSLTLQEES PIVHINKTLE EINQERGTDS VIEIQASDSQ CQAFCLLEAA
ASPILKNLVS LCTLPTANWK FATVIFDQTR FLLKEQEKVV SDAVRQGTID EREMTFKHAA
LLHLLVTIRD VLLTCSLDTA LGYLSKAKDI YNSILGPYLG DIWRQLEIVQ FIRGKKPETN
YKIQELQCQI LSWMQSQQQI KVLIIIRMDS DGEKHFLIKI LNKIEGLTLT VLHSNERKDF
LESEGVLRGT SSCVVVHNQY IGADFPWSNF SFVVEYNYVE DSCWTKHCKE LNIPYMAFKV
ILPDTVLERS TLLDRFGGFL LEIQIPYVFF ASEGLLNTPD ILQLLESNYN ISLVERGCSE
SLKLFGSSEC YVVVTIDEHT AIILQDLEEL NYEKASDNII MRLMALSLQY RYCWIILYTK
ETLNSEYLLT EKTLHHLALI YAALVSFGLN SEELDVKLII APGVEATALI IRQIADHSLM
TSKRDPHEWL DKSWLKVSPS EEEMYLLDFP CINPLVAQLM LNKGPSLHWI LLATLCQLQE
LLPEVPEKVL KHFCSITSLF KIGSSSITKS PQISSPQENR NQISTLSSQS SASDLDSVIQ
EHNEYYQYLG LGETVQEDKT TILNDNSSIM ELKGISSFLP PVTSYNQTSY WKDSSCKSNI
GQNTPFLINI ESRRPAYNSF LNHSDSESDV FSLGLTQMNC ETIKSPTDTQ KRVSVVPRFI
NSQKRRTHEA KGFINKDVSD PIFSLEGTQS PLHWNFKKNI WEQENHPFNL QYGAQQTACN
KLYSQKGNLF TDQQKCLSDE SEGLTCESSK DETFWRELPS VPSLDLFRAS DSNANQKEFN
SLYFYQRAGK SLGQKRHHES SFNSGDKESL TGFMCSQLPQ FKKRRLAYEK VPGRVDGQTR
LRFF*
speed 0.50 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