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Results for the Protein: NP_000136
31657138

follicle-stimulating hormone receptor isoform 1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  OVARIAN DYSGENESIS 1
  OVARIAN HYPERSTIMULATION SYNDROME
  OVARIAN HYPERSTIMULATION SYNDROME, MODIFIER OF SEVERITY OF, INCLUDED
  OVARIAN RESPONSE TO FSH STIMULATION
13
2
13
2
0
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Default View:

LRRNT - smart00013
LRRNT - pfam01462
GnHR_trans - pfam12369
7tm_1 - pfam00001


RefSeq Protein: NP_000136
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LRRNTpfam014626e-081745
7tm_1pfam000012.4e-51384626
LRRNTsmart000132.3e-081750
GnHR_transpfam123692.1e-40282349

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6165 Polymorphismp.ALA307THRN/A
dbSNPrs6166 Polymorphismp.SER680ASNN/A
OMIM136435.0007 Diseasep.ALA418THROVARIAN DYSGENESIS 1
OMIM136435.0001 Diseasep.ALA189VALOVARIAN DYSGENESIS 1
OMIM136435.0004 Diseasep.ARG573CYSOVARIAN DYSGENESIS 1
OMIM136435.0006 Diseasep.ASN680SEROVARIAN RESPONSE TO FSH STIMULATION||OVARIAN HYPERSTIMULATION SYNDROME, MODIFIER OF SEVERITY OF, INCLUDED
OMIM136435.0009 Diseasep.ASP567ASNOVARIAN HYPERSTIMULATION SYNDROME
OMIM136435.0003 Diseasep.ILE160THROVARIAN DYSGENESIS 1
OMIM136435.0012 Diseasep.ILE545THROVARIAN HYPERSTIMULATION SYNDROME
OMIM136435.0014 Diseasep.PRO587HISOVARIAN DYSGENESIS 1
OMIM136435.0010 Diseasep.PRO519THROVARIAN DYSGENESIS 1
OMIM136435.0013 Diseasep.SER128TYROVARIAN HYPERSTIMULATION SYNDROME
OMIM136435.0005 Diseasep.THR307ALAOVARIAN RESPONSE TO FSH STIMULATION
OMIM136435.0011 Diseasep.THR449ALAOVARIAN HYPERSTIMULATION SYNDROME
OMIM136435.0008 Diseasep.THR449ILEOVARIAN HYPERSTIMULATION SYNDROME



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