mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (explain)

Summary

known as potential disease variant: rs16244 (probable pathogenic)
known disease mutation at this position (HGMD CM980772)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:49216161A>GN/A show variant in all transcripts IGV

HGNC symbol

FSHR

Ensembl transcript ID

ENST00000304421

Genbank transcript ID

NM_181446

UniProt peptide

P23945

alteration type

single base exchange

alteration region

intron

DNA changes

g.165516T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121909659

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	3	3

known as potential disease variant: rs16244 (probable pathogenic for Ovarian hyperstimulation syndrome|Ovarian dysgenesis 1|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980772)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980772)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980772)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.938	0.993
	3.139	0.973
(flanking)	-0.887	0.001

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 marginally increased	165515	wt: 0.8867 / mu: 0.9637 (marginal change - not scored)	wt: ACACAATTGAAAGAA mu: ACACAACTGAAAGAA	ACAA\|ttga
Donor marginally increased	165516	wt: 0.8877 / mu: 0.9086 (marginal change - not scored)	wt: CACAATTGAAAGAAA mu: CACAACTGAAAGAAA	CAAT\|tgaa
Donor increased	165520	wt: 0.53 / mu: 0.91	wt: ATTGAAAGAAATTCT mu: ACTGAAAGAAATTCT	TGAA\|agaa
Donor increased	165521	wt: 0.38 / mu: 0.56	wt: TTGAAAGAAATTCTT mu: CTGAAAGAAATTCTT	GAAA\|gaaa
Donor marginally increased	165510	wt: 0.8327 / mu: 0.8572 (marginal change - not scored)	wt: CATCCACACAATTGA mu: CATCCACACAACTGA	TCCA\|caca

distance from splice site

1544

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
18	366	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
144	169	REPEAT	LRR 5.	might get lost (downstream of altered splice site)
147	153	STRAND		might get lost (downstream of altered splice site)
168	171	STRAND		might get lost (downstream of altered splice site)
170	192	REPEAT	LRR 6.	might get lost (downstream of altered splice site)
173	176	STRAND		might get lost (downstream of altered splice site)
187	192	TURN		might get lost (downstream of altered splice site)
191	191	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
193	199	STRAND		might get lost (downstream of altered splice site)
193	216	REPEAT	LRR 7.	might get lost (downstream of altered splice site)
197	198	CONFLICT	EL -> AV (in Ref. 1; AAA52477).	might get lost (downstream of altered splice site)
199	199	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
211	216	TURN		might get lost (downstream of altered splice site)
217	240	REPEAT	LRR 8.	might get lost (downstream of altered splice site)
221	224	STRAND		might get lost (downstream of altered splice site)
235	237	STRAND		might get lost (downstream of altered splice site)
241	259	REPEAT	LRR 9.	might get lost (downstream of altered splice site)
243	245	STRAND		might get lost (downstream of altered splice site)
258	260	TURN		might get lost (downstream of altered splice site)
266	268	STRAND		might get lost (downstream of altered splice site)
272	280	HELIX		might get lost (downstream of altered splice site)
293	293	CARBOHYD	N-linked (GlcNAc...) (By similarity).	might get lost (downstream of altered splice site)
295	295	CONFLICT	S -> P (in Ref. 8; CAA48179).	might get lost (downstream of altered splice site)
318	318	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
345	348	STRAND		might get lost (downstream of altered splice site)
367	387	TRANSMEM	Helical; Name=1; (Potential).	might get lost (downstream of altered splice site)
388	398	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
399	421	TRANSMEM	Helical; Name=2; (Potential).	might get lost (downstream of altered splice site)
422	443	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
442	442	DISULFID	By similarity.	might get lost (downstream of altered splice site)
444	465	TRANSMEM	Helical; Name=3; (Potential).	might get lost (downstream of altered splice site)
466	485	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
486	508	TRANSMEM	Helical; Name=4; (Potential).	might get lost (downstream of altered splice site)
509	528	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
517	517	DISULFID	By similarity.	might get lost (downstream of altered splice site)
529	550	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
551	573	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
574	597	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)
598	608	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
609	630	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
631	695	TOPO_DOM	Cytoplasmic (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

65 / 65

chromosome

strand

-1

last intron/exon boundary

841

theoretical NMD boundary in CDS

726

length of CDS

2010

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)

165516

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

49216161

original gDNA sequence snippet

TAACATAAACATCCACACAATTGAAAGAAATTCTTTCGTGG

altered gDNA sequence snippet

TAACATAAACATCCACACAACTGAAAGAAATTCTTTCGTGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLW LNKNGIQEIH NCAFNGTQLD ELNLSDNNNL
EELPNDVFHG ASGPVILDIS RTRIHSLPSY GLENLKKLRA RSTYNLKKLP TLEKLVALME
ASLTYPSHCC AFANWRRQIS ELHPICNKSI LRQEVDYMTQ ARGQRSSLAE DNESSYSRGF
DMTYTEFDYD LCNEVVDVTC SPKPDAFNPC EDIMGYNILR VLIWFISILA ITGNIIVLVI
LTTSQYKLTV PRFLMCNLAF ADLCIGIYLL LIASVDIHTK SQYHNYAIDW QTGAGCDAAG
FFTVFASELS VYTLTAITLE RWHTITHAMQ LDCKVQLRHA ASVMVMGWIF AFAAALFPIF
GISSYMKVSI CLPMDIDSPL SQLYVMSLLV LNVLAFVVIC GCYIHIYLTV RNPNIVSSSS
DTRIAKRMAM LIFTDFLCMA PISFFAISAS LKVPLITVSK AKILLVLFHP INSCANPFLY
AIFTKNFRRD FFILLSKCGC YEMQAQIYRT ETSSTVHNTH PRNGHCSSAP RVTSGSTYIL
VPLSHLAQN*

mutated AA sequence

N/A

speed

0.86 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