Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.652571025087196 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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 ENST00000326139
Genbank transcript ID NM_000823
UniProt peptide Q02643
alteration type single base exchange
alteration region CDS
DNA changes c.665C>A
cDNA.711C>A
g.35384C>A
AA changes A222E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 222
frameshift no
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 68
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      222FATMTNFSWLLAEAVYLNCLLAST
mutated  not conserved    222FATMTNFSWLLEEAVYLNCLLAS
Ptroglodytes  all identical  ENSPTRG00000019048  222FATMTNFSWLLAEAVYLTCLLAS
Mmulatta  all identical  ENSMMUG00000011764  158FATMTNFSWLLAEAVYLTCLLAS
Fcatus  not conserved  ENSFCAG00000002543  220FTTMTNFSWLLVEAVYLTCLLAS
Mmusculus  all identical  ENSMUSG00000004654  222LATMTNFSWLLAEAVYLSCLLAS
Ggallus  not conserved  ENSGALG00000005212  219YFMMTNFIWLLVEALYLNCLLLS
Trubripes  not conserved  ENSTRUG00000017747  225YCVMANFFWLLVEALYLNSLLVS
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
205227TRANSMEMHelical; Name=3; (Potential).lost
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1272 / 1272
position (AA) of stopcodon in wt / mu AA sequence 424 / 424
position of stopcodon in wt / mu cDNA 1318 / 1318
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 47 / 47
chromosome 7
strand 1
last intron/exon boundary 1193
theoretical NMD boundary in CDS 1096
length of CDS 1272
coding sequence (CDS) position 665
cDNA position
(for ins/del: last normal base / first normal base)		 711
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 CAACTTCAGCTGGCTGTTGGCAGAAGCCGTCTACCTGAACT
altered cDNA sequence snippet CAACTTCAGCTGGCTGTTGGAAGAAGCCGTCTACCTGAACT
wildtype AA sequence MDRRMWGAHV FCVLSPLPTV LGHMHPECDF ITQLREDESA CLQAAEEMPN TTLGCPATWD
GLLCWPTAGS GEWVTLPCPD FFSHFSSESG AVKRDCTITG WSEPFPPYPV ACPVPLELLA
EEESYFSTVK IIYTVGHSIS IVALFVAITI LVALRRLHCP RNYVHTQLFT TFILKAGAVF
LKDAALFHSD DTDHCSFSTV LCKVSVAASH FATMTNFSWL LAEAVYLNCL LASTSPSSRR
AFWWLVLAGW GLPVLFTGTW VSCKLAFEDI ACWDLDDTSP YWWIIKGPIV LSVGVNFGLF
LNIIRILVRK LEPAQGSLHT QSQYWRLSKS TLFLIPLFGI HYIIFNFLPD NAGLGIRLPL
ELGLGSFQGF IVAILYCFLN QEVRTEISRK WHGHDPELLP AWRTRAKWTT PSRSAAKVLT
SMC*
mutated AA sequence MDRRMWGAHV FCVLSPLPTV LGHMHPECDF ITQLREDESA CLQAAEEMPN TTLGCPATWD
GLLCWPTAGS GEWVTLPCPD FFSHFSSESG AVKRDCTITG WSEPFPPYPV ACPVPLELLA
EEESYFSTVK IIYTVGHSIS IVALFVAITI LVALRRLHCP RNYVHTQLFT TFILKAGAVF
LKDAALFHSD DTDHCSFSTV LCKVSVAASH FATMTNFSWL LEEAVYLNCL LASTSPSSRR
AFWWLVLAGW GLPVLFTGTW VSCKLAFEDI ACWDLDDTSP YWWIIKGPIV LSVGVNFGLF
LNIIRILVRK LEPAQGSLHT QSQYWRLSKS TLFLIPLFGI HYIIFNFLPD NAGLGIRLPL
ELGLGSFQGF IVAILYCFLN QEVRTEISRK WHGHDPELLP AWRTRAKWTT PSRSAAKVLT
SMC*
speed 1.33 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