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mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM010308)
  • known disease mutation: rs15993 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31013667C>AN/A show variant in all transcripts   IGV
HGNC symbol GHRHR
Ensembl transcript ID ENST00000337750
Genbank transcript ID N/A
UniProt peptide Q02643
alteration type single base exchange
alteration region intron
DNA changes g.35384C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918120
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs15993 (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 CM010308)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.311
0.6710.898
(flanking)-0.7650.797
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained353800.31mu: GGCTGTTGGAAGAAG CTGT|tgga
distance from splice site 377
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
23132TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
6464DISULFIDmight get lost (downstream of altered splice site)
7276STRANDmight get lost (downstream of altered splice site)
7878DISULFIDmight get lost (downstream of altered splice site)
8084HELIXmight get lost (downstream of altered splice site)
9297STRANDmight get lost (downstream of altered splice site)
9696DISULFIDmight get lost (downstream of altered splice site)
108111HELIXmight get lost (downstream of altered splice site)
112112DISULFIDmight get lost (downstream of altered splice site)
116119HELIXmight get lost (downstream of altered splice site)
133152TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
153162TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
163181TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
178178CONFLICTA -> R (in Ref. 1; AAA35890).might get lost (downstream of altered splice site)
182204TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
205227TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
228240TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
241262TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
263280TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
281304TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
305329TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
330348TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
349361TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
362381TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
382423TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
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 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)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 35384
chromosomal position
(for ins/del: last normal base / first normal base)		 31013667
original gDNA sequence snippet CAACTTCAGCTGGCTGTTGGCAGAAGCCGTCTACCTGAACT
altered gDNA sequence snippet CAACTTCAGCTGGCTGTTGGAAGAAGCCGTCTACCTGAACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVPGTPSPLL GRGKELWLES LACLPGAVKR DCTITGWSEP FPPYPVACPV PLELLAEEGC
PCSSLARG*
mutated AA sequence N/A
speed 0.64 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