Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999986848487666 (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) chr5:36269551G>CN/A show variant in all transcripts   IGV
HGNC symbol RANBP3L
Ensembl transcript ID ENST00000296604
Genbank transcript ID NM_145000
UniProt peptide Q86VV4
alteration type single base exchange
alteration region CDS
DNA changes c.209C>G
cDNA.695C>G
g.32666C>G
AA changes T70R Score: 71 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 70
frameshift no
known variant Reference ID: rs1035480
databasehomozygous (C/C)heterozygousallele carriers
1000G16796812360
ExAC---
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4741
1.631
(flanking)2.4741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained326650.61mu: TTCCAAGAAAGCGTG CCAA|gaaa
Donor gained326600.37mu: TGGTTTTCCAAGAAA GTTT|tcca
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      70EAAEPECNGFPTKRVRSSSFTFHI
mutated  not conserved    70AEPECNGFPRKRVRSSSFTFH
Ptroglodytes  not conserved  ENSPTRG00000016799  70AEPECNGFPRKRVRSSSFTFH
Mmulatta  not conserved  ENSMMUG00000018820  70AEPECNGFSRKRVRSSSFTFH
Fcatus  no alignment  ENSFCAG00000001019  n/a
Mmusculus  not conserved  ENSMUSG00000048424  70AEPEFTGFLRKRVRSSSVTLH
Ggallus  not conserved  ENSGALG00000021304  40KA-ENDFICSSKKRARSSSFAFQ
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039110  n/a
Celegans  no alignment  R12C12.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
276417DOMAINRanBD1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1398 / 1398
position (AA) of stopcodon in wt / mu AA sequence 466 / 466
position of stopcodon in wt / mu cDNA 1884 / 1884
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 487 / 487
chromosome 5
strand -1
last intron/exon boundary 1841
theoretical NMD boundary in CDS 1304
length of CDS 1398
coding sequence (CDS) position 209
cDNA position
(for ins/del: last normal base / first normal base)		 695
gDNA position
(for ins/del: last normal base / first normal base)		 32666
chromosomal position
(for ins/del: last normal base / first normal base)		 36269551
original gDNA sequence snippet AGAATGTAATGGTTTTCCAACAAAGCGTGTACGGTCTTCAT
altered gDNA sequence snippet AGAATGTAATGGTTTTCCAAGAAAGCGTGTACGGTCTTCAT
original cDNA sequence snippet AGAATGTAATGGTTTTCCAACAAAGCGTGTACGGTCTTCAT
altered cDNA sequence snippet AGAATGTAATGGTTTTCCAAGAAAGCGTGTACGGTCTTCAT
wildtype AA sequence MTTIPRKGSS HLPGSLHTCK LKLQEDRRQQ EKSVIAQPIF VFEKGEQTFK RPAEDTLYEA
AEPECNGFPT KRVRSSSFTF HITDSQSQGV RKNNVFMTSA LVQSSVDIKS AEQGPVKHSK
HVIRPAILQL PQARSCAKVR KTFGHKALES CKTKEKTNNK ISEGNSYLLS ENLSRARISV
QLSTNQDFLG ATSVGCQPNE DKCSFKSCSS NFVFGENMVE RVLGTQKLTQ PQLENDSYAK
EKPFKSIPKF PVNFLSSRTD SIKNTSLIES AAAFSSQPSR KCLLEKIDVI TGEETEHNVL
KINCKLFIFN KTTQSWIERG RGTLRLNDTA STDCGTLQSR LIMRNQGSLR LILNSKLWAQ
MKIQRANHKN VRITATDLED YSIKIFLIQA SAQDTAYLYA AIHHRLVALQ SFNKQRDVNQ
AESLSETAQQ LNCESCDENE DDFIQVTKNG SDPSSWTHRQ SVACS*
mutated AA sequence MTTIPRKGSS HLPGSLHTCK LKLQEDRRQQ EKSVIAQPIF VFEKGEQTFK RPAEDTLYEA
AEPECNGFPR KRVRSSSFTF HITDSQSQGV RKNNVFMTSA LVQSSVDIKS AEQGPVKHSK
HVIRPAILQL PQARSCAKVR KTFGHKALES CKTKEKTNNK ISEGNSYLLS ENLSRARISV
QLSTNQDFLG ATSVGCQPNE DKCSFKSCSS NFVFGENMVE RVLGTQKLTQ PQLENDSYAK
EKPFKSIPKF PVNFLSSRTD SIKNTSLIES AAAFSSQPSR KCLLEKIDVI TGEETEHNVL
KINCKLFIFN KTTQSWIERG RGTLRLNDTA STDCGTLQSR LIMRNQGSLR LILNSKLWAQ
MKIQRANHKN VRITATDLED YSIKIFLIQA SAQDTAYLYA AIHHRLVALQ SFNKQRDVNQ
AESLSETAQQ LNCESCDENE DDFIQVTKNG SDPSSWTHRQ SVACS*
speed 1.30 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