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UniProtKB/Swiss-Prot P22888: Variant p.Cys343Ser

Lutropin-choriogonadotropic hormone receptor
Gene: LHCGR
Variant information

Variant position:  343
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Cysteine (C) to Serine (S) at position 343 (C343S, p.Cys343Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (C) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  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.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  343
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  699
The length of the canonical sequence.

Location on the sequence:   ESELSGWDYEYGFCLPKTPR  C APEPDAFNPCEDIMGYDFLR
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         ESELSGWDYEYGFCLPKTPRCAPEPDAFNPCEDIMGYDFLR

Mouse                         ENELSGWDYDYDFCSPKTLQCTPEPDAFNPCEDIMGYAFLR

Rat                           ENELSGWDYDYGFCSPKTLQCAPEPDAFNPCEDIMGYAFLR

Pig                           ESELSDWDYDYGFCSPKTLQCAPEPDAFNPCEDIMGYDFLR

Bovine                        ESELSGWDYDYGFCLPKTLQCAPEPDAFNPCEDIMGYNFLR

Chicken                       EDEMTGFDFEYDFCQPKILTCTPEPDAFNPCEDILGYSFLR

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

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.


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.