Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000326139
Querying Taster for transcript #2: ENST00000409904
Querying Taster for transcript #3: ENST00000409233
Querying Taster for transcript #4: ENST00000409316
Querying Taster for transcript #5: ENST00000337750
MT speed 0 s - this script 3.91732 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GHRHRdisease_causing_automatic0.000193152469358137simple_aaeaffected0Q95Rsingle base exchangers121918121show file
GHRHRdisease_causing_automatic0.000259895848801376simple_aaeaffected0Q116Rsingle base exchangers121918121show file
GHRHRdisease_causing_automatic0.306504992715146simple_aaeaffected0K329Esingle base exchangers121918121show file
GHRHRdisease_causing_automatic0.306504992715146simple_aaeaffected0K265Esingle base exchangers121918121show file
GHRHRdisease_causing_automatic0.999999999999995without_aaeaffected0single base exchangers121918121show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.000193152469358137 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM020716)
  • known disease mutation: rs15994 (pathogenic)
  • protein features (might be) affected
  • 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 ENST00000409316
Genbank transcript ID N/A
UniProt peptide Q02643
alteration type single base exchange
alteration region CDS
DNA changes c.284A>G
cDNA.721A>G
g.37771A>G
AA changes Q95R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 95
frameshift no
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
effectgDNA positionscorewt detection 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
speciesmatchgeneaaalignment
Human      95PPYPVSVLASLQVDTFPDPTLWNS
mutated  all conserved    95PPYPVSVLASLRVDTFPDPTLWN
Ptroglodytes  no alignment  ENSPTRG00000019048  n/a
Mmulatta  no alignment  ENSMMUG00000011764  n/a
Fcatus  all conserved  ENSFCAG00000002543  109PPYPVACPVPLELLT
Mmusculus  no alignment  ENSMUSG00000004654  n/a
Ggallus  no alignment  ENSGALG00000005212  n/a
Trubripes  no alignment  ENSTRUG00000017747  n/a
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
23132TOPO_DOMExtracellular (Potential).lost
9297STRANDlost
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 456 / 456
position (AA) of stopcodon in wt / mu AA sequence 152 / 152
position of stopcodon in wt / mu cDNA 893 / 893
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 438 / 438
chromosome 7
strand 1
last intron/exon boundary 883
theoretical NMD boundary in CDS 395
length of CDS 456
coding sequence (CDS) position 284
cDNA position
(for ins/del: last normal base / first normal base)		 721
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 MLPFSTATTL TTAASPLAAR ALHWHVGELQ TGLRGHRVLG PGRHLPLLVD HQRAHCPLGR
GELWAFSQYY PHPGEETGAS SGQPPYPVSV LASLQVDTFP DPTLWNSLHH LQLPARQCWP
GHPPPPGAGT GFLPGLHCCH PLLLPQPRGE D*
mutated AA sequence MLPFSTATTL TTAASPLAAR ALHWHVGELQ TGLRGHRVLG PGRHLPLLVD HQRAHCPLGR
GELWAFSQYY PHPGEETGAS SGQPPYPVSV LASLRVDTFP DPTLWNSLHH LQLPARQCWP
GHPPPPGAGT GFLPGLHCCH PLLLPQPRGE D*
speed 0.78 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.000259895848801376 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM020716)
  • known disease mutation: rs15994 (pathogenic)
  • protein features (might be) affected
  • 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 ENST00000409233
Genbank transcript ID N/A
UniProt peptide Q02643
alteration type single base exchange
alteration region CDS
DNA changes c.347A>G
cDNA.605A>G
g.37771A>G
AA changes Q116R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 116
frameshift no
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
effectgDNA positionscorewt detection 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
speciesmatchgeneaaalignment
Human      116PPYPVSVLASLQVDTFPDPTLWNS
mutated  all conserved    116PPYPVSVLASLRVDTF
Ptroglodytes  no alignment  ENSPTRG00000019048  n/a
Mmulatta  no alignment  ENSMMUG00000011764  n/a
Fcatus  all conserved  ENSFCAG00000002543  109PPYPVACPVPLELLT
Mmusculus  no alignment  ENSMUSG00000004654  n/a
Ggallus  no alignment  ENSGALG00000005212  n/a
Trubripes  no alignment  ENSTRUG00000017747  n/a
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
23132TOPO_DOMExtracellular (Potential).lost
116119HELIXlost
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 519 / 519
position (AA) of stopcodon in wt / mu AA sequence 173 / 173
position of stopcodon in wt / mu cDNA 777 / 777
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 767
theoretical NMD boundary in CDS 458
length of CDS 519
coding sequence (CDS) position 347
cDNA position
(for ins/del: last normal base / first normal base)		 605
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 PLELLAEEVL
GPGRHLPLLV DHQRAHCPLG RGELWAFSQY YPHPGEETGA SSGQPPYPVS VLASLQVDTF
PDPTLWNSLH HLQLPARQCW PGHPPPPGAG TGFLPGLHCC HPLLLPQPRG ED*
mutated AA sequence MVPGTPSPLL GRGKELWLES LACLPGAVKR DCTITGWSEP FPPYPVACPV PLELLAEEVL
GPGRHLPLLV DHQRAHCPLG RGELWAFSQY YPHPGEETGA SSGQPPYPVS VLASLRVDTF
PDPTLWNSLH HLQLPARQCW PGHPPPPGAG TGFLPGLHCC HPLLLPQPRG ED*
speed 0.58 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.306504992715146 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM020716)
  • known disease mutation: rs15994 (pathogenic)
  • protein features (might be) affected
  • 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 ENST00000326139
Genbank transcript ID NM_000823
UniProt peptide Q02643
alteration type single base exchange
alteration region CDS
DNA changes c.985A>G
cDNA.1031A>G
g.37771A>G
AA changes K329E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 329
frameshift no
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
effectgDNA positionscorewt detection 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
speciesmatchgeneaaalignment
Human      329LHTQSQYWRLSKSTLFLIPLFGIH
mutated  all conserved    329LHTQSQYWRLSESTLFLIPLFGI
Ptroglodytes  all identical  ENSPTRG00000019048  329LHTQSQYWRLSKSTLFLIPLFGI
Mmulatta  not conserved  ENSMMUG00000011764  265LKTGLQPRSATDSLILLVKPEGW
Fcatus  all identical  ENSFCAG00000002543  327LHPQSQYRRLSKSTLLLIPLFGI
Mmusculus  all identical  ENSMUSG00000004654  329LHTRAQYWRLSKSTLLLIPLFGI
Ggallus  all conserved  ENSGALG00000005212  326FNNSSQYRRLSRSTLLLIPLFGT
Trubripes  all identical  ENSTRUG00000017747  332FNNSSQYRRLAKSTLLLIPLFGT
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
305329TOPO_DOMCytoplasmic (Potential).lost
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 985
cDNA position
(for ins/del: last normal base / first normal base)		 1031
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 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 LAEAVYLNCL LASTSPSSRR
AFWWLVLAGW GLPVLFTGTW VSCKLAFEDI ACWDLDDTSP YWWIIKGPIV LSVGVNFGLF
LNIIRILVRK LEPAQGSLHT QSQYWRLSES TLFLIPLFGI HYIIFNFLPD NAGLGIRLPL
ELGLGSFQGF IVAILYCFLN QEVRTEISRK WHGHDPELLP AWRTRAKWTT PSRSAAKVLT
SMC*
speed 0.57 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.306504992715146 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM020716)
  • known disease mutation: rs15994 (pathogenic)
  • protein features (might be) affected
  • 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 ENST00000409904
Genbank transcript ID N/A
UniProt peptide Q02643
alteration type single base exchange
alteration region CDS
DNA changes c.793A>G
cDNA.1051A>G
g.37771A>G
AA changes K265E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 265
frameshift no
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
effectgDNA positionscorewt detection 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
speciesmatchgeneaaalignment
Human      265LHTQSQYWRLSKSTLFLIPLFGIH
mutated  all conserved    265LHTQSQYWRLSESTLFLIPLFGI
Ptroglodytes  all identical  ENSPTRG00000019048  329LHTQSQYWRLSKSTLFLIPLFGI
Mmulatta  not conserved  ENSMMUG00000011764  263LKTGLQPRSATDSLILLVKPEGW
Fcatus  all identical  ENSFCAG00000002543  327LHPQSQYRRLSKSTLLLIPLFGI
Mmusculus  all identical  ENSMUSG00000004654  329LHTRAQYWRLSKSTLLLIPLFGI
Ggallus  all conserved  ENSGALG00000005212  326FNNSSQYRRLSRSTLLLIPLFGT
Trubripes  all identical  ENSTRUG00000017747  332FNNSSQYRRLAKSTLLLIPLFGT
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
241262TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
263280TOPO_DOMExtracellular (Potential).lost
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 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1338 / 1338
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 1213
theoretical NMD boundary in CDS 904
length of CDS 1080
coding sequence (CDS) position 793
cDNA position
(for ins/del: last normal base / first normal base)		 1051
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 PLELLAEEES
YFSTVKIIYT VGHSISIVAL FVAITILVAL RRLHCPRNYV HTQLFTTFIL KAGAVFLKDA
ALFHSDDTDH CSFSTVLCKV SVAASHFATM TNFSWLLAEA VYLNCLLAST SPSSRRAFWW
LVLAGWGLPV LFTGTWVSCK LAFEDIACWD LDDTSPYWWI IKGPIVLSVG VNFGLFLNII
RILVRKLEPA QGSLHTQSQY WRLSKSTLFL IPLFGIHYII FNFLPDNAGL GIRLPLELGL
GSFQGFIVAI LYCFLNQEVR TEISRKWHGH DPELLPAWRT RAKWTTPSRS AAKVLTSMC*
mutated AA sequence MVPGTPSPLL GRGKELWLES LACLPGAVKR DCTITGWSEP FPPYPVACPV PLELLAEEES
YFSTVKIIYT VGHSISIVAL FVAITILVAL RRLHCPRNYV HTQLFTTFIL KAGAVFLKDA
ALFHSDDTDH CSFSTVLCKV SVAASHFATM TNFSWLLAEA VYLNCLLAST SPSSRRAFWW
LVLAGWGLPV LFTGTWVSCK LAFEDIACWD LDDTSPYWWI IKGPIVLSVG VNFGLFLNII
RILVRKLEPA QGSLHTQSQY WRLSESTLFL IPLFGIHYII FNFLPDNAGL GIRLPLELGL
GSFQGFIVAI LYCFLNQEVR TEISRKWHGH DPELLPAWRT RAKWTTPSRS AAKVLTSMC*
speed 0.60 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
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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 0.59 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
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Problems