MutationTaster - study a chromosomal position

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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000406846
Querying Taster for transcript #2: ENST00000304421
Querying Taster for transcript #3: ENST00000346173
Querying Taster for transcript #4: ENST00000541117
MT speed 0 s - this script 3.919102 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FSHR	disease_causing_automatic	0.999999717683985	simple_aae		affected	0	I519T	single base exchange	rs121909664		show file
FSHR	disease_causing_automatic	0.999999717683985	simple_aae		affected	0	I483T	single base exchange	rs121909664		show file
FSHR	disease_causing_automatic	0.999999717683985	simple_aae		affected	0	I281T	single base exchange	rs121909664		show file
FSHR	disease_causing_automatic	0.99999983965791	simple_aae		affected	0	I545T	single base exchange	rs121909664		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999717683985 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM067992)
known disease mutation: rs16253 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:49190326A>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

CDS

DNA changes

c.1556T>C
cDNA.1620T>C
g.191351T>C

AA changes

I519T Score: 89 explain score(s)

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

519

frameshift

known variant

Reference ID: rs121909664

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs16253 (pathogenic for Ovarian hyperstimulation syndrome) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM067992)

known disease mutation at this position, please check HGMD for details (HGMD ID CM067992)
known disease mutation at this position, please check HGMD for details (HGMD ID CM067992)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.784	1
	4.887	1
(flanking)	2.415	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	191347	wt: 0.2976 / mu: 0.3252 (marginal change - not scored)	wt: TCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATC mu: TCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATC	gtgg\|TCAT
Acc marginally increased	191345	wt: 0.7249 / mu: 0.7872 (marginal change - not scored)	wt: GCTCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATA mu: GCTCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATA	ttgt\|GGTC
Acc marginally increased	191343	wt: 0.3631 / mu: 0.4300 (marginal change - not scored)	wt: GTGCTCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTA mu: GTGCTCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTA	cttt\|GTGG
Donor gained	191346	0.44	mu: TTTGTGGTCACCTGT	TGTG\|gtca

distance from splice site

557

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

519

mutated

not conserved

519

Ptroglodytes

all identical

ENSPTRG00000011914

545

Mmulatta

all identical

ENSMMUG00000017196

545

Fcatus

all identical

ENSFCAG00000001215

545

Mmusculus

all identical

ENSMUSG00000032937

544

Ggallus

all identical

ENSGALG00000009100

545

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000071494

526

Dmelanogaster

all identical

FBgn0016650

672

Celegans

all conserved

C50H2.1

612

Xtropicalis

all identical

ENSXETG00000025827

447

protein features

start (aa)	end (aa)	feature	details
509	528	TOPO_DOM	Extracellular (Potential).	lost
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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2010 / 2010

position (AA) of stopcodon in wt / mu AA sequence

670 / 670

position of stopcodon in wt / mu cDNA

2074 / 2074

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

1556

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

1620

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

191351

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

49190326

original gDNA sequence snippet

TGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATCCACA

altered gDNA sequence snippet

TGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATCCACA

original cDNA sequence snippet

TGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATCCACA

altered cDNA sequence snippet

TGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATCCACA

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

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 LNVLAFVVTC GCYIHIYLTV RNPNIVSSSS
DTRIAKRMAM LIFTDFLCMA PISFFAISAS LKVPLITVSK AKILLVLFHP INSCANPFLY
AIFTKNFRRD FFILLSKCGC YEMQAQIYRT ETSSTVHNTH PRNGHCSSAP RVTSGSTYIL
VPLSHLAQN*

speed

0.50 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

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999717683985 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM067992)
known disease mutation: rs16253 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:49190326A>GN/A show variant in all transcripts IGV

HGNC symbol

FSHR

Ensembl transcript ID

ENST00000346173

Genbank transcript ID

N/A

UniProt peptide

P23945

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1448T>C
cDNA.1558T>C
g.191351T>C

AA changes

I483T Score: 89 explain score(s)

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

483

frameshift

known variant

Reference ID: rs121909664

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.784	1
	4.887	1
(flanking)	2.415	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	191347	wt: 0.2976 / mu: 0.3252 (marginal change - not scored)	wt: TCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATC mu: TCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATC	gtgg\|TCAT
Acc marginally increased	191345	wt: 0.7249 / mu: 0.7872 (marginal change - not scored)	wt: GCTCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATA mu: GCTCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATA	ttgt\|GGTC
Acc marginally increased	191343	wt: 0.3631 / mu: 0.4300 (marginal change - not scored)	wt: GTGCTCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTA mu: GTGCTCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTA	cttt\|GTGG
Donor gained	191346	0.44	mu: TTTGTGGTCACCTGT	TGTG\|gtca

distance from splice site

780

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

483

mutated

not conserved

483

Ptroglodytes

all identical

ENSPTRG00000011914

545

Mmulatta

all identical

ENSMMUG00000017196

545

Fcatus

all identical

ENSFCAG00000001215

545

Mmusculus

all identical

ENSMUSG00000032937

544

Ggallus

all identical

ENSGALG00000009100

545

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000071494

526

Dmelanogaster

all identical

FBgn0016650

672

Celegans

all conserved

C50H2.1

612

Xtropicalis

all identical

ENSXETG00000025827

447

protein features

start (aa)	end (aa)	feature	details
466	485	TOPO_DOM	Cytoplasmic (Potential).	lost
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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1902 / 1902

position (AA) of stopcodon in wt / mu AA sequence

634 / 634

position of stopcodon in wt / mu cDNA

2012 / 2012

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

111 / 111

chromosome

strand

-1

last intron/exon boundary

779

theoretical NMD boundary in CDS

618

length of CDS

1902

coding sequence (CDS) position

1448

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

1558

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

191351

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

49190326

original gDNA sequence snippet

TGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATCCACA

altered gDNA sequence snippet

TGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATCCACA

original cDNA sequence snippet

TGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATCCACA

altered cDNA sequence snippet

TGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATCCACA

wildtype AA sequence

MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILSELHPIC NKSILRQEVD
YMTQARGQRS SLAEDNESSY SRGFDMTYTE FDYDLCNEVV DVTCSPKPDA FNPCEDIMGY
NILRVLIWFI SILAITGNII VLVILTTSQY KLTVPRFLMC NLAFADLCIG IYLLLIASVD
IHTKSQYHNY AIDWQTGAGC DAAGFFTVFA SELSVYTLTA ITLERWHTIT HAMQLDCKVQ
LRHAASVMVM GWIFAFAAAL FPIFGISSYM KVSICLPMDI DSPLSQLYVM SLLVLNVLAF
VVICGCYIHI YLTVRNPNIV SSSSDTRIAK RMAMLIFTDF LCMAPISFFA ISASLKVPLI
TVSKAKILLV LFHPINSCAN PFLYAIFTKN FRRDFFILLS KCGCYEMQAQ IYRTETSSTV
HNTHPRNGHC SSAPRVTSGS TYILVPLSHL AQN*

mutated AA sequence

MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILSELHPIC NKSILRQEVD
YMTQARGQRS SLAEDNESSY SRGFDMTYTE FDYDLCNEVV DVTCSPKPDA FNPCEDIMGY
NILRVLIWFI SILAITGNII VLVILTTSQY KLTVPRFLMC NLAFADLCIG IYLLLIASVD
IHTKSQYHNY AIDWQTGAGC DAAGFFTVFA SELSVYTLTA ITLERWHTIT HAMQLDCKVQ
LRHAASVMVM GWIFAFAAAL FPIFGISSYM KVSICLPMDI DSPLSQLYVM SLLVLNVLAF
VVTCGCYIHI YLTVRNPNIV SSSSDTRIAK RMAMLIFTDF LCMAPISFFA ISASLKVPLI
TVSKAKILLV LFHPINSCAN PFLYAIFTKN FRRDFFILLS KCGCYEMQAQ IYRTETSSTV
HNTHPRNGHC SSAPRVTSGS TYILVPLSHL AQN*

speed

0.45 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999717683985 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM067992)
known disease mutation: rs16253 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:49190326A>GN/A show variant in all transcripts IGV

HGNC symbol

FSHR

Ensembl transcript ID

ENST00000541117

Genbank transcript ID

N/A

UniProt peptide

P23945

alteration type

single base exchange

alteration region

CDS

DNA changes

c.842T>C
cDNA.1395T>C
g.191351T>C

AA changes

I281T Score: 89 explain score(s)

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

281

frameshift

known variant

Reference ID: rs121909664

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.784	1
	4.887	1
(flanking)	2.415	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	191347	wt: 0.2976 / mu: 0.3252 (marginal change - not scored)	wt: TCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATC mu: TCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATC	gtgg\|TCAT
Acc marginally increased	191345	wt: 0.7249 / mu: 0.7872 (marginal change - not scored)	wt: GCTCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATA mu: GCTCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATA	ttgt\|GGTC
Acc marginally increased	191343	wt: 0.3631 / mu: 0.4300 (marginal change - not scored)	wt: GTGCTCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTA mu: GTGCTCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTA	cttt\|GTGG
Donor gained	191346	0.44	mu: TTTGTGGTCACCTGT	TGTG\|gtca

distance from splice site

473

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

281

mutated

not conserved

281

Ptroglodytes

all identical

ENSPTRG00000011914

545

Mmulatta

all identical

ENSMMUG00000017196

545

Fcatus

all identical

ENSFCAG00000001215

545

Mmusculus

all identical

ENSMUSG00000032937

544

Ggallus

all identical

ENSGALG00000009100

545

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000071494

526

Dmelanogaster

all identical

FBgn0016650

672

Celegans

all conserved

C50H2.1

612

Xtropicalis

all identical

ENSXETG00000025827

447

protein features

start (aa)	end (aa)	feature	details
18	366	TOPO_DOM	Extracellular (Potential).	lost
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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1296 / 1296

position (AA) of stopcodon in wt / mu AA sequence

432 / 432

position of stopcodon in wt / mu cDNA

1849 / 1849

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

554 / 554

chromosome

strand

-1

last intron/exon boundary

616

theoretical NMD boundary in CDS

length of CDS

1296

coding sequence (CDS) position

842

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

1395

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

191351

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

49190326

original gDNA sequence snippet

TGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATCCACA

altered gDNA sequence snippet

TGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATCCACA

original cDNA sequence snippet

TGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATCCACA

altered cDNA sequence snippet

TGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATCCACA

wildtype AA sequence

MEASLTYPSH CCAFANWRRQ ISELHPICNK SILRQEVDYM TQARGQRSSL AEDNESSYSR
GFDMTYTEFD YDLCNEVVDV TCSPKPDAFN PCEDIMGYNI LRVLIWFISI LAITGNIIVL
VILTTSQYKL TVPRFLMCNL AFADLCIGIY LLLIASVDIH TKSQYHNYAI DWQTGAGCDA
AGFFTVFASE LSVYTLTAIT LERWHTITHA MQLDCKVQLR HAASVMVMGW IFAFAAALFP
IFGISSYMKV SICLPMDIDS PLSQLYVMSL LVLNVLAFVV ICGCYIHIYL TVRNPNIVSS
SSDTRIAKRM AMLIFTDFLC MAPISFFAIS ASLKVPLITV SKAKILLVLF HPINSCANPF
LYAIFTKNFR RDFFILLSKC GCYEMQAQIY RTETSSTVHN THPRNGHCSS APRVTSGSTY
ILVPLSHLAQ N*

mutated AA sequence

MEASLTYPSH CCAFANWRRQ ISELHPICNK SILRQEVDYM TQARGQRSSL AEDNESSYSR
GFDMTYTEFD YDLCNEVVDV TCSPKPDAFN PCEDIMGYNI LRVLIWFISI LAITGNIIVL
VILTTSQYKL TVPRFLMCNL AFADLCIGIY LLLIASVDIH TKSQYHNYAI DWQTGAGCDA
AGFFTVFASE LSVYTLTAIT LERWHTITHA MQLDCKVQLR HAASVMVMGW IFAFAAALFP
IFGISSYMKV SICLPMDIDS PLSQLYVMSL LVLNVLAFVV TCGCYIHIYL TVRNPNIVSS
SSDTRIAKRM AMLIFTDFLC MAPISFFAIS ASLKVPLITV SKAKILLVLF HPINSCANPF
LYAIFTKNFR RDFFILLSKC GCYEMQAQIY RTETSSTVHN THPRNGHCSS APRVTSGSTY
ILVPLSHLAQ N*

speed

0.91 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99999983965791 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM067992)
known disease mutation: rs16253 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:49190326A>GN/A show variant in all transcripts IGV

HGNC symbol

FSHR

Ensembl transcript ID

ENST00000406846

Genbank transcript ID

NM_000145

UniProt peptide

P23945

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1634T>C
cDNA.1754T>C
g.191351T>C

AA changes

I545T Score: 89 explain score(s)

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

545

frameshift

known variant

Reference ID: rs121909664

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.784	1
	4.887	1
(flanking)	2.415	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	191347	wt: 0.2976 / mu: 0.3252 (marginal change - not scored)	wt: TCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATC mu: TCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATC	gtgg\|TCAT
Acc marginally increased	191345	wt: 0.7249 / mu: 0.7872 (marginal change - not scored)	wt: GCTCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATA mu: GCTCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATA	ttgt\|GGTC
Acc marginally increased	191343	wt: 0.3631 / mu: 0.4300 (marginal change - not scored)	wt: GTGCTCAATGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTA mu: GTGCTCAATGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTA	cttt\|GTGG
Donor gained	191346	0.44	mu: TTTGTGGTCACCTGT	TGTG\|gtca

distance from splice site

780

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

545

mutated

not conserved

545

Ptroglodytes

all identical

ENSPTRG00000011914

545

Mmulatta

all identical

ENSMMUG00000017196

545

Fcatus

all identical

ENSFCAG00000001215

545

Mmusculus

all identical

ENSMUSG00000032937

544

Ggallus

all identical

ENSGALG00000009100

545

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000071494

526

Dmelanogaster

all identical

FBgn0016650

672

Celegans

all conserved

C50H2.1

612

Xtropicalis

all identical

ENSXETG00000025827

447

protein features

start (aa)	end (aa)	feature	details
529	550	TRANSMEM	Helical; Name=5; (Potential).	lost
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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2088 / 2088

position (AA) of stopcodon in wt / mu AA sequence

696 / 696

position of stopcodon in wt / mu cDNA

2208 / 2208

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

121 / 121

chromosome

strand

-1

last intron/exon boundary

975

theoretical NMD boundary in CDS

804

length of CDS

2088

coding sequence (CDS) position

1634

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

1754

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

191351

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

49190326

original gDNA sequence snippet

TGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATCCACA

altered gDNA sequence snippet

TGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATCCACA

original cDNA sequence snippet

TGTCCTGGCCTTTGTGGTCATCTGTGGCTGCTATATCCACA

altered cDNA sequence snippet

TGTCCTGGCCTTTGTGGTCACCTGTGGCTGCTATATCCACA

wildtype AA sequence

MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILDISRTRI HSLPSYGLEN
LKKLRARSTY NLKKLPTLEK LVALMEASLT YPSHCCAFAN WRRQISELHP ICNKSILRQE
VDYMTQARGQ RSSLAEDNES SYSRGFDMTY TEFDYDLCNE VVDVTCSPKP DAFNPCEDIM
GYNILRVLIW FISILAITGN IIVLVILTTS QYKLTVPRFL MCNLAFADLC IGIYLLLIAS
VDIHTKSQYH NYAIDWQTGA GCDAAGFFTV FASELSVYTL TAITLERWHT ITHAMQLDCK
VQLRHAASVM VMGWIFAFAA ALFPIFGISS YMKVSICLPM DIDSPLSQLY VMSLLVLNVL
AFVVICGCYI HIYLTVRNPN IVSSSSDTRI AKRMAMLIFT DFLCMAPISF FAISASLKVP
LITVSKAKIL LVLFHPINSC ANPFLYAIFT KNFRRDFFIL LSKCGCYEMQ AQIYRTETSS
TVHNTHPRNG HCSSAPRVTS GSTYILVPLS HLAQN*

mutated AA sequence

MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILDISRTRI HSLPSYGLEN
LKKLRARSTY NLKKLPTLEK LVALMEASLT YPSHCCAFAN WRRQISELHP ICNKSILRQE
VDYMTQARGQ RSSLAEDNES SYSRGFDMTY TEFDYDLCNE VVDVTCSPKP DAFNPCEDIM
GYNILRVLIW FISILAITGN IIVLVILTTS QYKLTVPRFL MCNLAFADLC IGIYLLLIAS
VDIHTKSQYH NYAIDWQTGA GCDAAGFFTV FASELSVYTL TAITLERWHT ITHAMQLDCK
VQLRHAASVM VMGWIFAFAA ALFPIFGISS YMKVSICLPM DIDSPLSQLY VMSLLVLNVL
AFVVTCGCYI HIYLTVRNPN IVSSSSDTRI AKRMAMLIFT DFLCMAPISF FAISASLKVP
LITVSKAKIL LVLFHPINSC ANPFLYAIFT KNFRRDFFIL LSKCGCYEMQ AQIYRTETSS
TVHNTHPRNG HCSSAPRVTS GSTYILVPLS HLAQN*

speed

0.49 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems