Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999998256833916 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:141019110C>AN/A show variant in all transcripts   IGV
HGNC symbol RELL2
Ensembl transcript ID ENST00000518856
Genbank transcript ID N/A
UniProt peptide Q8NC24
alteration type single base exchange
alteration region CDS
DNA changes c.199C>A
cDNA.520C>A
g.2594C>A
AA changes L67I Score: 5 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 67
frameshift no
known variant Reference ID: rs14251
databasehomozygous (A/A)heterozygousallele carriers
1000G43511211556
ExAC106241151922143
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3011
2.1551
(flanking)3.4921
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2597wt: 0.70 / mu: 0.78wt: GCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAGAGG
mu: GCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAGAGG		 ctcc|ATTG
Acc increased2593wt: 0.43 / mu: 0.74wt: CTGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAA
mu: CTGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAA		 ttgc|CTCC
distance from splice site 80
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      67HTVHLGSAAPCLHCSRSKRPPLVR
mutated  all conserved    67GSAAPCIHCSRSKRPPLV
Ptroglodytes  all conserved  ENSPTRG00000017349  133GSAAPCIHCSRSKRPPLV
Mmulatta  all conserved  ENSMMUG00000012591  133GSAAPCIHCSRSKRPPLV
Fcatus  all conserved  ENSFCAG00000006905  133GSAAPCIHCSRNKRPPLV
Mmusculus  all conserved  ENSMUSG00000044024  133GSAAPCIHCSRSKRPPLV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000071876  133LGGEISSCVHCMQGQI--LK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000002692  134STQAPCIHCTRKKRSLLH
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 714 / 714
position (AA) of stopcodon in wt / mu AA sequence 238 / 238
position of stopcodon in wt / mu cDNA 1035 / 1035
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 322 / 322
chromosome 5
strand 1
last intron/exon boundary 1037
theoretical NMD boundary in CDS 665
length of CDS 714
coding sequence (CDS) position 199
cDNA position
(for ins/del: last normal base / first normal base)		 520
gDNA position
(for ins/del: last normal base / first normal base)		 2594
chromosomal position
(for ins/del: last normal base / first normal base)		 141019110
original gDNA sequence snippet TGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAG
altered gDNA sequence snippet TGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAG
original cDNA sequence snippet TGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAG
altered cDNA sequence snippet TGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAG
wildtype AA sequence MNEDTVERIV RCIIQNEANA EALKEMLGDS EGEGTVQLSS VDATSSLQDG APSHHHTVHL
GSAAPCLHCS RSKRPPLVRQ GRSKEGKSRP RTGETTVFSV GRFRVTHIEK RYGLHEHRDG
SPTDRSWGSG GGQDPGGGQG SGGGQPKAGM PAMERLPPER PQPQVLASPP VQNGGLRDSS
LTPRALEGNP RASAEPTLRA GGRGPSPGLP TQEANGQPSK PDTSDHQVSL PQGAGSM*
mutated AA sequence MNEDTVERIV RCIIQNEANA EALKEMLGDS EGEGTVQLSS VDATSSLQDG APSHHHTVHL
GSAAPCIHCS RSKRPPLVRQ GRSKEGKSRP RTGETTVFSV GRFRVTHIEK RYGLHEHRDG
SPTDRSWGSG GGQDPGGGQG SGGGQPKAGM PAMERLPPER PQPQVLASPP VQNGGLRDSS
LTPRALEGNP RASAEPTLRA GGRGPSPGLP TQEANGQPSK PDTSDHQVSL PQGAGSM*
speed 1.09 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