Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.992805264776931 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950361)
  • known disease mutation: rs13235 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:43500967C>TN/A show variant in all transcripts   IGV
HGNC symbol EPB42
Ensembl transcript ID ENST00000300215
Genbank transcript ID NM_000119
UniProt peptide P16452
alteration type single base exchange
alteration region CDS
DNA changes c.929G>A
cDNA.1387G>A
g.12515G>A
AA changes R310Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 310
frameshift no
known variant Reference ID: rs121917734
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13235 (pathogenic for Spherocytosis type 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950361)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950361)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950361)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7410.759
4.1730.989
(flanking)0.3660.988
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 increased12512wt: 0.9693 / mu: 0.9747 (marginal change - not scored)wt: AGTGCTGCGATGCCT
mu: AGTGCTGCAATGCCT		 TGCT|gcga
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      310WVLAAVACTVLRCLGIPARVVTTF
mutated  all conserved    310LAAVACTVLQCLGIPARVVTT
Ptroglodytes  all identical  ENSPTRG00000006988  280WVLAAVACTVLRCLGIPARVVTT
Mmulatta  all identical  ENSMMUG00000022255  309LAAVACTVLRCLGIPARVVTT
Fcatus  all identical  ENSFCAG00000013219  307FAAVACTVLRCLGIPARVVTT
Mmusculus  all identical  ENSMUSG00000023216  280WVSAAVACTVLRCLGIPARVVTT
Ggallus  all identical  ENSGALG00000021230  286WVFAAVMCSVLRCLGIPTRVVT
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 2166 / 2166
position (AA) of stopcodon in wt / mu AA sequence 722 / 722
position of stopcodon in wt / mu cDNA 2624 / 2624
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 459 / 459
chromosome 15
strand -1
last intron/exon boundary 2462
theoretical NMD boundary in CDS 1953
length of CDS 2166
coding sequence (CDS) position 929
cDNA position
(for ins/del: last normal base / first normal base)		 1387
gDNA position
(for ins/del: last normal base / first normal base)		 12515
chromosomal position
(for ins/del: last normal base / first normal base)		 43500967
original gDNA sequence snippet CCCTCTTCTCACAGTGCTGCGATGCCTGGGAATCCCTGCCC
altered gDNA sequence snippet CCCTCTTCTCACAGTGCTGCAATGCCTGGGAATCCCTGCCC
original cDNA sequence snippet TGTTGCTTGCACAGTGCTGCGATGCCTGGGAATCCCTGCCC
altered cDNA sequence snippet TGTTGCTTGCACAGTGCTGCAATGCCTGGGAATCCCTGCCC
wildtype AA sequence MGQGEPSQRS TGLAGLYAAP AASPVFIKGS GMDALGIKSC 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 MGQGEPSQRS TGLAGLYAAP AASPVFIKGS GMDALGIKSC 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
LAAVACTVLQ 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 0.68 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