Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999968258481603 (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) chr10:124189197A>GN/A show variant in all transcripts   IGV
HGNC symbol PLEKHA1
Ensembl transcript ID ENST00000433307
Genbank transcript ID NM_021622
UniProt peptide Q9HB21
alteration type single base exchange
alteration region CDS
DNA changes c.958A>G
cDNA.980A>G
g.55025A>G
AA changes T320A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 320
frameshift no
known variant Reference ID: rs1045216
databasehomozygous (G/G)heterozygousallele carriers
1000G14238942317
ExAC28316-238654451
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0030.953
0.6890.974
(flanking)3.1170.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased55017wt: 0.22 / mu: 0.41wt: ACACGCTTTCCGTCCTACCAACGCAGCCACCGCCACCTCAC
mu: ACACGCTTTCCGTCCTACCAACGCAGCCGCCGCCACCTCAC		 ccaa|CGCA
Acc marginally increased55016wt: 0.8713 / mu: 0.8969 (marginal change - not scored)wt: AACACGCTTTCCGTCCTACCAACGCAGCCACCGCCACCTCA
mu: AACACGCTTTCCGTCCTACCAACGCAGCCGCCGCCACCTCA		 acca|ACGC
Donor marginally increased55016wt: 0.2899 / mu: 0.3017 (marginal change - not scored)wt: CTACCAACGCAGCCA
mu: CTACCAACGCAGCCG		 ACCA|acgc
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      320SKHAFRPTNAATATSHSTASRSNS
mutated  not conserved    320SKHAFRPTNAAAATSHSTASRSN
Ptroglodytes  not conserved  ENSPTRG00000003010  320SKHAFRPTNAAAATSHSTASRSN
Mmulatta  not conserved  ENSMMUG00000013040  320SKHAFRPANAAATTSHSTASRSN
Fcatus  not conserved  ENSFCAG00000003654  318PKHAFRSASAAAAASLCTASRSN
Mmusculus  all identical  ENSMUSG00000040268  320PPHIPQPL-AATLWSQAVPWRSE
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000005860  321PISAMPPCYPEWGVAVTCGTCTQ
Drerio  not conserved  ENSDARG00000030064  319HTGSVIPWTASPAVSGHPERHGP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000015586  314SEHG--APSRSFILPHS-AARAQ
protein features
start (aa)end (aa)featuredetails 
332332MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
362362MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1215 / 1215
position (AA) of stopcodon in wt / mu AA sequence 405 / 405
position of stopcodon in wt / mu cDNA 1237 / 1237
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 23 / 23
chromosome 10
strand 1
last intron/exon boundary 923
theoretical NMD boundary in CDS 850
length of CDS 1215
coding sequence (CDS) position 958
cDNA position
(for ins/del: last normal base / first normal base)		 980
gDNA position
(for ins/del: last normal base / first normal base)		 55025
chromosomal position
(for ins/del: last normal base / first normal base)		 124189197
original gDNA sequence snippet TCCGTCCTACCAACGCAGCCACCGCCACCTCACATTCCACA
altered gDNA sequence snippet TCCGTCCTACCAACGCAGCCGCCGCCACCTCACATTCCACA
original cDNA sequence snippet TCCGTCCTACCAACGCAGCCACCGCCACCTCACATTCCACA
altered cDNA sequence snippet TCCGTCCTACCAACGCAGCCGCCGCCACCTCACATTCCACA
wildtype AA sequence MPYVDRQNRI CGFLDIEENE NSGKFLRRYF ILDTREDSFV WYMDNPQNLP SGSSRVGAIK
LTYISKVSDA TKLRPKAEFC FVMNAGMRKY FLQANDQQDL VEWVNVLNKA IKITVPKQSD
SQPNSDNLSR HGECGKKQVS YRTDIVGGVP IITPTQKEEV NECGESIDRN NLKRSQSHLP
YFTPKPPQDS AVIKAGYCVK QGAVMKNWKR RYFQLDENTI GYFKSELEKE PLRVIPLKEV
HKVQECKQSD IMMRDNLFEI VTTSRTFYVQ ADSPEEMHSW IKAVSGAIVA QRGPGRSASS
EHPPGPSESK HAFRPTNAAT ATSHSTASRS NSLVSTFTME KRGFYESLAK VKPGNFKVQT
VSPREPASKV TEQALLRPQS KNGPQEKDCD LVDLDDASLP VSDV*
mutated AA sequence MPYVDRQNRI CGFLDIEENE NSGKFLRRYF ILDTREDSFV WYMDNPQNLP SGSSRVGAIK
LTYISKVSDA TKLRPKAEFC FVMNAGMRKY FLQANDQQDL VEWVNVLNKA IKITVPKQSD
SQPNSDNLSR HGECGKKQVS YRTDIVGGVP IITPTQKEEV NECGESIDRN NLKRSQSHLP
YFTPKPPQDS AVIKAGYCVK QGAVMKNWKR RYFQLDENTI GYFKSELEKE PLRVIPLKEV
HKVQECKQSD IMMRDNLFEI VTTSRTFYVQ ADSPEEMHSW IKAVSGAIVA QRGPGRSASS
EHPPGPSESK HAFRPTNAAA ATSHSTASRS NSLVSTFTME KRGFYESLAK VKPGNFKVQT
VSPREPASKV TEQALLRPQS KNGPQEKDCD LVDLDDASLP VSDV*
speed 0.78 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