mutation t@sting

Prediction

disease causing

Model: without_aae, prob: 0.999999886057409 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM016199)
known disease mutation: rs8629 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:53823691G>AN/A show variant in all transcripts IGV

HGNC symbol

AMHR2

Ensembl transcript ID

ENST00000379791

Genbank transcript ID

NM_001164691

UniProt peptide

Q16671

alteration type

single base exchange

alteration region

intron

DNA changes

g.6053G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs137853104

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

known disease mutation: rs8629 (pathogenic for Persistent mullerian duct syndrome, type II) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM016199)

known disease mutation at this position, please check HGMD for details (HGMD ID CM016199)
known disease mutation at this position, please check HGMD for details (HGMD ID CM016199)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.012	0.989
	0.211	0.985
(flanking)	0.566	0.99

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
Donor increased	6050	wt: 0.39 / mu: 0.47	wt: GGCCCTCCGACGAGC mu: GGCCCTCCAACGAGC	CCCT\|ccga

distance from splice site

282

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
171	573	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
203	518	DOMAIN	Protein kinase.	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

1 / 1

chromosome

strand

last intron/exon boundary

1141

theoretical NMD boundary in CDS

1090

length of CDS

1437

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)

6053

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

53823691

original gDNA sequence snippet

GGATTGGGGCATGGCCCTCCGACGAGCTGATATTTACTCTT

altered gDNA sequence snippet

GGATTGGGGCATGGCCCTCCAACGAGCTGATATTTACTCTT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLGSLGLWAL LPTAVEAPPN RRTCVFFEAP GVRGSTKTLG ELLDTGTELP RAIRCLYSRC
CFGIWNLTQD RAQVEMQGCR DSDEPGCESL HCDPSPRAHP SPGSTLFTCS CGTDFCNANY
SHLPPPGSPG TPGSQGPQAA PGESIWMALV LLGLFLLLLL LLGSIILALL QRKNYRVRGE
PVPEPRPDSG RDWSVELQEL PELCFSQVIR EGGHAVVWAG QLQGKLVAIK AFPPRSVAQF
QAERALYELP GLQHDHIVRF ITASRGGPGR LLSGPLLVLE LHPKGSLCHY LTQYTSDWGS
SLRMALSLAQ GLAFLHEERW QNGQYKPGIA HRDLSSQNVL IREDGSCAIG DLGLALVLPG
LTQPPAWTPT QPQGPAAIME DPDGLRELLE DCWDADPEAR LTAECVQQRL AALAHPQESH
PFPESCPRGC PPLCPEDCTS IPAPTILPCR PQRSACHFSV QQGPCSRNPQ PACTLSPV*

mutated AA sequence

N/A

speed

0.26 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