mutation t@sting

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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 CM010309)
known disease mutation: rs15992 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:31013727T>GN/A show variant in all transcripts IGV

HGNC symbol

GHRHR

Ensembl transcript ID

ENST00000409316

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.35444T>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs121918119
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs15992 (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 CM010309)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010309)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010309)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.202	0.926
	4.383	1
(flanking)	1.913	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	35434	wt: 0.8379 / mu: 0.8528 (marginal change - not scored)	wt: CCTCCACCTCCCCCAGCTCAAGGAGAGCCTTCTGGTGGCTG mu: CCTCCACCTCCCCCAGCTCAAGGAGAGCCTGCTGGTGGCTG	tcaa\|GGAG

distance from splice site

317

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

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

strand

last intron/exon boundary

883

theoretical NMD boundary in CDS

395

length of CDS

456

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)

35444

chromosomal position
(for ins/del: last normal base / first normal base)

31013727

original gDNA sequence snippet

CCCCAGCTCAAGGAGAGCCTTCTGGTGGCTGGTTCTCGCTG

altered gDNA sequence snippet

CCCCAGCTCAAGGAGAGCCTGCTGGTGGCTGGTTCTCGCTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLPFSTATTL TTAASPLAAR ALHWHVGELQ TGLRGHRVLG PGRHLPLLVD HQRAHCPLGR
GELWAFSQYY PHPGEETGAS SGQPPYPVSV LASLQVDTFP DPTLWNSLHH LQLPARQCWP
GHPPPPGAGT GFLPGLHCCH PLLLPQPRGE D*

mutated AA sequence

N/A

speed

0.87 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