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 ENST00000444782
Genbank transcript ID NM_001130029
UniProt peptide Q8NC24
alteration type single base exchange
alteration region CDS
DNA changes c.397C>A
cDNA.1245C>A
g.2594C>A
AA changes L133I Score: 5 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 133
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      133HTVHLGSAAPCLHCSRSKRPPLVR
mutated  all conserved    133HTVHLGSAAPCIHCSRSKRPPLV
Ptroglodytes  all conserved  ENSPTRG00000017349  133HTVHLGSAAPCIHCSRSKRPPLV
Mmulatta  all conserved  ENSMMUG00000012591  133HTVHLGSAAPCIHCSRSKRPPLV
Fcatus  all conserved  ENSFCAG00000006905  133HTVHLGSAAPCIHCSRNKRPPLV
Mmusculus  all conserved  ENSMUSG00000044024  133HTVHLGSAAPCIHCSRSKRPPLV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000071876  133HTVHLGGEISSCVHCMQGQ--ILK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000002692  134LGSTQAPCIHCTRKKRSLLH
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 912 / 912
position (AA) of stopcodon in wt / mu AA sequence 304 / 304
position of stopcodon in wt / mu cDNA 1760 / 1760
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 849 / 849
chromosome 5
strand 1
last intron/exon boundary 1762
theoretical NMD boundary in CDS 863
length of CDS 912
coding sequence (CDS) position 397
cDNA position
(for ins/del: last normal base / first normal base)		 1245
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 MSEPQPDLEP PQHGLYMLFL LVLVFFLMGL VGFMICHVLK KKGYRCRTSR GSEPDDAQLQ
PPEDDDMNED TVERIVRCII QNEANAEALK EMLGDSEGEG TVQLSSVDAT SSLQDGAPSH
HHTVHLGSAA PCLHCSRSKR PPLVRQGRSK EGKSRPRTGE TTVFSVGRFR VTHIEKRYGL
HEHRDGSPTD RSWGSGGGQD PGGGQGSGGG QPKAGMPAME RLPPERPQPQ VLASPPVQNG
GLRDSSLTPR ALEGNPRASA EPTLRAGGRG PSPGLPTQEA NGQPSKPDTS DHQVSLPQGA
GSM*
mutated AA sequence MSEPQPDLEP PQHGLYMLFL LVLVFFLMGL VGFMICHVLK KKGYRCRTSR GSEPDDAQLQ
PPEDDDMNED TVERIVRCII QNEANAEALK EMLGDSEGEG TVQLSSVDAT SSLQDGAPSH
HHTVHLGSAA PCIHCSRSKR PPLVRQGRSK EGKSRPRTGE TTVFSVGRFR VTHIEKRYGL
HEHRDGSPTD RSWGSGGGQD PGGGQGSGGG QPKAGMPAME RLPPERPQPQ VLASPPVQNG
GLRDSSLTPR ALEGNPRASA EPTLRAGGRG PSPGLPTQEA NGQPSKPDTS DHQVSLPQGA
GSM*
speed 1.11 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