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UniProtKB/Swiss-Prot P22888: Variant p.Cys343Ser

Lutropin-choriogonadotropic hormone receptor
Gene: LHCGR
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Variant information Variant position: help 343
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Serine (S) at position 343 (C343S, p.Cys343Ser).
Physico-chemical properties: help Change from medium size and polar (C) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In LHR; Leydig cell hypoplasia type 1; completely devoided of hormone-induced cAMP reporter gene activation; although initial translocation to the endoplasmic reticulum is normal translocation is halted or misrouted and the mutant does not reach the cell surface and cannot bind hormone.
Other resources: help


Sequence information Variant position: help 343
Protein sequence length: help 699
Location on the sequence: help ESELSGWDYEYGFCLPKTPR C APEPDAFNPCEDIMGYDFLR
Residue conservation: help 
Human                         ESELSGWDYEYGFCLPKTPRCAPEPDAFNPCEDIMGYDFLR

Mouse                         ENELSGWDYDYDFCSPKTLQCTPEPDAFNPCEDIMGYAFLR

Rat                           ENELSGWDYDYGFCSPKTLQCAPEPDAFNPCEDIMGYAFLR

Pig                           ESELSDWDYDYGFCSPKTLQCAPEPDAFNPCEDIMGYDFLR

Bovine                        ESELSGWDYDYGFCLPKTLQCAPEPDAFNPCEDIMGYNFLR

Chicken                       EDEMTGFDFEYDFCQPKILTCTPEPDAFNPCEDILGYSFLR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 27 – 699 Lutropin-choriogonadotropic hormone receptor
Topological domain 27 – 363 Extracellular
Modified residue 331 – 331 Sulfotyrosine
Mutagenesis 331 – 331 Y -> F. Reduces intracellular cAMP accumulation.
Mutagenesis 333 – 333 Y -> F. No change in intracellular cAMP accumulation.
Beta strand 343 – 345



Literature citations
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.
Martens J.W.M.; Lumbroso S.; Verhoef-Post M.; Georget V.; Richter-Unruh A.; Szarras-Czapnik M.; Romer T.E.; Brunner H.G.; Themmen A.P.N.; Sultan C.;
J. Clin. Endocrinol. Metab. 87:2506-2513(2002)
Cited for: VARIANTS LHR SER-343 AND ARG-543; CHARACTERIZATION OF VARIANTS LHR SER-343 AND ARG-543;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.