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UniProtKB/Swiss-Prot P22888: Variant p.Glu354Lys

Lutropin-choriogonadotropic hormone receptor
Gene: LHCGR
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Variant information Variant position: help 354
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 354 (E354K, p.Glu354Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In LHR; Leydig cell hypoplasia type 1.
Other resources: help


Sequence information Variant position: help 354
Protein sequence length: help 699
Location on the sequence: help GFCLPKTPRCAPEPDAFNPC E DIMGYDFLRVLIWLINILAI
Residue conservation: help 
Human                         GFCLPKTPRCAPEPDAFNPCEDIMGYDFLRVLIWLINILAI

Mouse                         DFCSPKTLQCTPEPDAFNPCEDIMGYAFLRVLIWLINILAI

Rat                           GFCSPKTLQCAPEPDAFNPCEDIMGYAFLRVLIWLINILAI

Pig                           GFCSPKTLQCAPEPDAFNPCEDIMGYDFLRVLIWLINILAI

Bovine                        GFCLPKTLQCAPEPDAFNPCEDIMGYNFLRVLIWLINILAI

Chicken                       DFCQPKILTCTPEPDAFNPCEDILGYSFLRVLIWFINILAL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 27 – 699 Lutropin-choriogonadotropic hormone receptor
Topological domain 27 – 363 Extracellular



Literature citations
A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.
Stavrou S.S.; Zhu Y.S.; Cai L.Q.; Katz M.D.; Herrera C.; Defillo-Ricart M.; Imperato-Mcginley J.;
J. Clin. Endocrinol. Metab. 83:2091-2098(1998)
Cited for: VARIANT LHR LYS-354;
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.