Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.08734233583044e-06 (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) chr22:30860830C>TN/A show variant in all transcripts   IGV
HGNC symbol SEC14L3
Ensembl transcript ID ENST00000403066
Genbank transcript ID N/A
UniProt peptide Q9UDX4
alteration type single base exchange
alteration region CDS
DNA changes c.464G>A
cDNA.748G>A
g.7207G>A
AA changes R155H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 155
frameshift no
known variant Reference ID: rs2269961
databasehomozygous (T/T)heterozygousallele carriers
1000G141820961
ExAC30602006023120
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0110.987
3.9821
(flanking)2.8230.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased7199wt: 0.25 / mu: 0.34wt: AGTGAGGACACTCGC
mu: AGTGAGGACACTCAC		 TGAG|gaca
Donor marginally increased7209wt: 0.9417 / mu: 0.9747 (marginal change - not scored)wt: CTCGCAGGAAAATTA
mu: CTCACAGGAAAATTA		 CGCA|ggaa
Donor marginally increased7210wt: 0.9779 / mu: 0.9902 (marginal change - not scored)wt: TCGCAGGAAAATTAT
mu: TCACAGGAAAATTAT		 GCAG|gaaa
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      155NLMKPFLSEDTRRKIIVLGNNWKE
mutated  not conserved    155NLMKPFLSEDTHRKIIVLGNNWK
Ptroglodytes  all identical  ENSPTRG00000014246  214NLMKPFLSEDTRRKIIVLGNNWK
Mmulatta  all identical  ENSMMUG00000019374  214NLMKPFLSEDTRRKIIVLGNNWK
Fcatus  all identical  ENSFCAG00000008644  214NLMKPFLSEDTRRKIIVLGSNWK
Mmusculus  all identical  ENSMUSG00000054986  214NLMKPFLSEDTRRKIVVLGSNSWK
Ggallus  all identical  ENSGALG00000007840  214NLVKHFLSEDTRKKVMVLGSNWK
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000059729  215NLVKHFLSEDTRRKVIVLGSNWQ
Dmelanogaster  not conserved  FBgn0035146  213NIVKKFLDENTTSKIVIYKSGVDRWQ
Celegans  not conserved  H06O01.3  211ASITAILQDPITRLVEMPSESDWK
Xtropicalis  all identical  ENSXETG00000016146  217NLIKHFLSEDTRRKIMVLGDNWQ
protein features
start (aa)end (aa)featuredetails 
76249DOMAINCRAL-TRIO.lost
275383DOMAINGOLD.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1062 / 1062
position (AA) of stopcodon in wt / mu AA sequence 354 / 354
position of stopcodon in wt / mu cDNA 1346 / 1346
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 285 / 285
chromosome 22
strand -1
last intron/exon boundary 1189
theoretical NMD boundary in CDS 854
length of CDS 1062
coding sequence (CDS) position 464
cDNA position
(for ins/del: last normal base / first normal base)		 748
gDNA position
(for ins/del: last normal base / first normal base)		 7207
chromosomal position
(for ins/del: last normal base / first normal base)		 30860830
original gDNA sequence snippet ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG
altered gDNA sequence snippet ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG
original cDNA sequence snippet ATTCCTGAGTGAGGACACTCGCAGGAAAATTATTGTGTTGG
altered cDNA sequence snippet ATTCCTGAGTGAGGACACTCACAGGAAAATTATTGTGTTGG
wildtype AA sequence MEFRKTMDID HILDWQPPEV IQKYMPGGLC GYDRDGCPVW YDIIGPLDPK GLLFSVTKQD
LLKTKMRDCE RILHECDLQT ERLGKKIETI VMIFDCEGLG LKHFWKPLVE VYQEFFGLLE
ENYPETLKFM LIVKATKLFP VGYNLMKPFL SEDTRRKIIV LGNNWKEGLL KLISPEELPA
QFGGTLTDPD GNPKCLTKIN YGGEIPKSMY VRDQVKTQYE HSVQINRGSS HQVEYEILFP
GCVLRWQFSS DGADIGFGVF LKTKMGERQR AGEMTDVLPS QRYNAHMVPE DGNLTCSEAG
VYVESESGKS CCHLPVIICS HELQNSHSNS QVMAYQMVRK CKLSRPLPLP ASN*
mutated AA sequence MEFRKTMDID HILDWQPPEV IQKYMPGGLC GYDRDGCPVW YDIIGPLDPK GLLFSVTKQD
LLKTKMRDCE RILHECDLQT ERLGKKIETI VMIFDCEGLG LKHFWKPLVE VYQEFFGLLE
ENYPETLKFM LIVKATKLFP VGYNLMKPFL SEDTHRKIIV LGNNWKEGLL KLISPEELPA
QFGGTLTDPD GNPKCLTKIN YGGEIPKSMY VRDQVKTQYE HSVQINRGSS HQVEYEILFP
GCVLRWQFSS DGADIGFGVF LKTKMGERQR AGEMTDVLPS QRYNAHMVPE DGNLTCSEAG
VYVESESGKS CCHLPVIICS HELQNSHSNS QVMAYQMVRK CKLSRPLPLP ASN*
speed 1.16 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