Variant position: 625 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:
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 KVLLVLFYPINSCANPFLYA IFTKTFQRDFFLLLSKFGCCK
Mouse KVLLVLFYPVNSCANPFLYA VFTKAFQRDFFLLLSRFGCCK
Rat KILLVLFYPVNSCANPFLYA IFTKAFQRDFLLLLSRFGCCK
Pig KVLLVLFYPVNSCANPFLYA IFTKAFRRDFFLLLSKSGCCK
Bovine KVLLVLFYPVNSCANPFLYA IFTKAFQRDFFLLLSKFGCCK
Chicken KILLVLFYPVNSCANPFLYA IFTKAFQRDFFLLMSKLGCCK
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.
Type Positions Description
27 – 699 Lutropin-choriogonadotropic hormone receptor
606 – 627 Helical; Name=7
643 – 643 S-palmitoyl cysteine
644 – 644 S-palmitoyl cysteine
643 – 643 C -> G. Loss of palmitoylation.
644 – 644 C -> G. Loss of palmitoylation.
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.
Martens J.W.; Verhoef-Post M.; Abelin N.; Ezabella M.; Toledo S.P.; Brunner H.G.; Themmen A.P.;
Mol. Endocrinol. 12:775-784(1998)
Cited for: VARIANT LHR LYS-625;
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