Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99984978881091      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920241)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:43507389C>TN/A show variant in all transcripts   IGV
HGNC symbol EPB42
Ensembl transcript ID ENST00000441366
Genbank transcript ID NM_001114134
UniProt peptide P16452
alteration type single base exchange
alteration region CDS
DNA changes c.334G>A
cDNA.560G>A
g.6093G>A
AA changes A112T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 112
frameshift no
known variant Reference ID: rs104894487
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC099

known disease mutation at this position, please check HGMD for details (HGMD ID CM920241)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920241)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920241)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.2090.996
4.2090.993
(flanking)-1.2440.113
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 increased6086wt: 0.2089 / mu: 0.2396 (marginal change - not scored)wt: ACACCTGCGGACGCT
mu: ACACCTGCGGACACT		 ACCT|gcgg
distance from splice site 97
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      112SWTISVTTPADAVIGHYSLLLQVS
mutated  not conserved    112SWTISVTTPADTVIGHYSLL
Ptroglodytes  all identical  ENSPTRG00000006988  112SWTISVTTPADAVIGHYSLL
Mmulatta  all identical  ENSMMUG00000022255  142SWTISVTTPADAVIGHYSLLLQV
Fcatus  all identical  ENSFCAG00000013219  139SWNISVTTPTDAIIGHYSLLLQV
Mmusculus  all identical  ENSMUSG00000023216  112HWTVSVTTPVDAVIGHYSLL
Ggallus  all identical  ENSGALG00000021230  112FWTISVNTPANASIGQYDLF
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 2076 / 2076
position (AA) of stopcodon in wt / mu AA sequence 692 / 692
position of stopcodon in wt / mu cDNA 2302 / 2302
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 227 / 227
chromosome 15
strand -1
last intron/exon boundary 2140
theoretical NMD boundary in CDS 1863
length of CDS 2076
coding sequence (CDS) position 334
cDNA position
(for ins/del: last normal base / first normal base)		 560
gDNA position
(for ins/del: last normal base / first normal base)		 6093
chromosomal position
(for ins/del: last normal base / first normal base)		 43507389
original gDNA sequence snippet CTGTGACCACACCTGCGGACGCTGTCATTGGCCACTACTCG
altered gDNA sequence snippet CTGTGACCACACCTGCGGACACTGTCATTGGCCACTACTCG
original cDNA sequence snippet CTGTGACCACACCTGCGGACGCTGTCATTGGCCACTACTCG
altered cDNA sequence snippet CTGTGACCACACCTGCGGACACTGTCATTGGCCACTACTCG
wildtype AA sequence MGQALGIKSC DFQAARNNEE HHTKALSSRR LFVRRGQPFT IILYFRAPVR AFLPALKKVA
LTAQTGEQPS KINRTQATFP ISSLGDRKWW SAVVEERDAQ SWTISVTTPA DAVIGHYSLL
LQVSGRKQLL LGQFTLLFNP WNREDAVFLK NEAQRMEYLL NQNGLIYLGT ADCIQAESWD
FGQFEGDVID LSLRLLSKDK QVEKWSQPVH VARVLGALLH FLKEQRVLPT PQTQATQEGA
LLNKRRGSVP ILRQWLTGRG RPVYDGQAWV LAAVACTVLR CLGIPARVVT TFASAQGTGG
RLLIDEYYNE EGLQNGEGQR GRIWIFQTST ECWMTRPALP QGYDGWQILH PSAPNGGGVL
GSCDLVPVRA VKEGTLGLTP AVSDLFAAIN ASCVVWKCCE DGTLELTDSN TKYVGNNIST
KGVGSDRCED ITQNYKYPEG SLQEKEVLER VEKEKMEREK DNGIRPPSLE TASPLYLLLK
APSSLPLRGD AQISVTLVNH SEQEKAVQLA IGVQAVHYNG VLAAKLWRKK LHLTLSANLE
KIITIGLFFS NFERNPPENT FLRLTAMATH SESNLSCFAQ EDIAICRPHL AIKMPEKAEQ
YQPLTASVSL QNSLDAPMED CVISILGRGL IHRERSYRFR SVWPENTMCA KFQFTPTHVG
LQRLTVEVDC NMFQNLTNYK SVTVVAPELS A*
mutated AA sequence MGQALGIKSC DFQAARNNEE HHTKALSSRR LFVRRGQPFT IILYFRAPVR AFLPALKKVA
LTAQTGEQPS KINRTQATFP ISSLGDRKWW SAVVEERDAQ SWTISVTTPA DTVIGHYSLL
LQVSGRKQLL LGQFTLLFNP WNREDAVFLK NEAQRMEYLL NQNGLIYLGT ADCIQAESWD
FGQFEGDVID LSLRLLSKDK QVEKWSQPVH VARVLGALLH FLKEQRVLPT PQTQATQEGA
LLNKRRGSVP ILRQWLTGRG RPVYDGQAWV LAAVACTVLR CLGIPARVVT TFASAQGTGG
RLLIDEYYNE EGLQNGEGQR GRIWIFQTST ECWMTRPALP QGYDGWQILH PSAPNGGGVL
GSCDLVPVRA VKEGTLGLTP AVSDLFAAIN ASCVVWKCCE DGTLELTDSN TKYVGNNIST
KGVGSDRCED ITQNYKYPEG SLQEKEVLER VEKEKMEREK DNGIRPPSLE TASPLYLLLK
APSSLPLRGD AQISVTLVNH SEQEKAVQLA IGVQAVHYNG VLAAKLWRKK LHLTLSANLE
KIITIGLFFS NFERNPPENT FLRLTAMATH SESNLSCFAQ EDIAICRPHL AIKMPEKAEQ
YQPLTASVSL QNSLDAPMED CVISILGRGL IHRERSYRFR SVWPENTMCA KFQFTPTHVG
LQRLTVEVDC NMFQNLTNYK SVTVVAPELS A*
speed 0.81 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