Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 0.999999999999995 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM020716)
  • known disease mutation: rs15994 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31016054A>GN/A show variant in all transcripts   IGV
HGNC symbol GHRHR
Ensembl transcript ID ENST00000337750
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.666A>G
g.37771A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918121
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs15994 (pathogenic for Isolated growth hormone deficiency, type 4) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM020716)

known disease mutation at this position, please check HGMD for details (HGMD ID CM020716)
known disease mutation at this position, please check HGMD for details (HGMD ID CM020716)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.3571
2.1431
(flanking)1.3791
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 133)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased37764wt: 0.21 / mu: 0.28wt: ATTTGTCTTTCCTGCAGGCGTCTCTCCAAGTCGACACTTTT
mu: ATTTGTCTTTCCTGCAGGCGTCTCTCCGAGTCGACACTTTT		 gcgt|CTCT
distance from splice site 11
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 signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 259 / 259
chromosome 7
strand 1
last intron/exon boundary 828
theoretical NMD boundary in CDS 519
length of CDS 207
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 666
gDNA position
(for ins/del: last normal base / first normal base)		 37771
chromosomal position
(for ins/del: last normal base / first normal base)		 31016054
original gDNA sequence snippet TTTCCTGCAGGCGTCTCTCCAAGTCGACACTTTTCCTGATC
altered gDNA sequence snippet TTTCCTGCAGGCGTCTCTCCGAGTCGACACTTTTCCTGATC
original cDNA sequence snippet CTCAGTATTGGCGTCTCTCCAAGTCGACACTTTTCCTGATC
altered cDNA sequence snippet CTCAGTATTGGCGTCTCTCCGAGTCGACACTTTTCCTGATC
wildtype AA sequence MVPGTPSPLL GRGKELWLES LACLPGAVKR DCTITGWSEP FPPYPVACPV PLELLAEEGC
PCSSLARG*
mutated AA sequence N/A
speed 0.24 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