Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140222641A>GN/A show variant in all transcripts   IGV
HGNC symbol PCDHA7
Ensembl transcript ID ENST00000525929
Genbank transcript ID NM_018910
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.8673A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs6580012
databasehomozygous (G/G)heterozygousallele carriers
1000G93510121947
ExAC17669-257115098
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1150
0.3660.003
(flanking)1.0340.004
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 increased8665wt: 0.3262 / mu: 0.3281 (marginal change - not scored)wt: TGGCGCAGCGAGCAA
mu: TGGCGCAGCGAGCGA
 GCGC|agcg
distance from splice site 6318
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 1 / 1
chromosome 5
strand 1
last intron/exon boundary 2504
theoretical NMD boundary in CDS 2453
length of CDS 2814
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)
N/A
gDNA position
(for ins/del: last normal base / first normal base)
8673
chromosomal position
(for ins/del: last normal base / first normal base)
140222641
original gDNA sequence snippet GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG
altered gDNA sequence snippet GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVCPNGYDPG GRHLLLFIII LAAWEAGRGQ LHYSVPEEAK HGNFVGRIAQ DLGLELAELV
PRLFRAVCKF RGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV ERPLQVFHVD
VEVKDINDNP PVFPATQRNL FIAESRPLDS RFPLEGASDA DIGENALLTY RLSPNEYFFL
DVPTSNQQVK PLGLVLRKLL DREETPELHL LLTATDGGKP ELTGTVQLLI TVLDNNDNAP
VFDRTLYTVK LPENVSIGTL VIHPNASDLD EGLNGDIIYS FSSDVSPDIK SKFHMDPLSG
AITVIGHMDF EESRAHKIPV EAVDKGFPPL AGHCTVLVEV VDVNDNAPQL TLTSLSLPIP
EDAQPGTVIT LISVFDRDFG VNGQVTCSLT PRVPFKLVST FKNYYSLVLD SALDRESVSA
YELVVTARDG GSPSLWATAS VSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAG
DADAQKNALV SYSLVELRVG ERALSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLAPRV GGTGGAVREL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPVAAGASI PFRVGLYTGE ISTTRALDET DAPRHRLLVL VKDHGEPSLT
ATATVLVSLV ESGQAPKASS RASLGIAGPE TELVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSAPSSEG ACSLVKPTLV CSSAVGSWSF SQQRRQRVCS GEGPPKTDLM AFSPSLPQGP
SSTDNPRQPN PDWRYSASLR AGMHSSVHLE EAGILRAGPG GPDQQWPTVS SATPEPEAGE
VSPPVGAGVN SNSWTFKYGP GNPKQSGPGE LPDKFIIPGS PAIISIRQEP TNSQIDKSDF
ITFGKKEETK KKKKKKKGNK TQEKKEKGNS TTDNSDQ*
mutated AA sequence N/A
speed 0.58 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