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UniProtKB/Swiss-Prot P30968: Variant p.Ser217Arg

Gonadotropin-releasing hormone receptor
Gene: GNRHR
Variant information

Variant position:  217
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 Serine (S) to Arginine (R) at position 217 (S217R, p.Ser217Arg).
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 small size and polar (S) to large size and basic (R)
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 HH7; altered hormone binding.
Any additional useful information about the variant.

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



Sequence information

Variant position:  217
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  328
The length of the canonical sequence.

Location on the sequence:   VTHCSFSQWWHQAFYNFFTF  S CLFIIPLFIMLICNAKIIFT
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                         VTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFT

                              VTHCSFPQWWHQAFYNFFTFSCLFIIPLFITLICNAKIIFT

Mouse                         VTHCSFPQWWHQAFYNFFTFGCLFIIPLLIMLICNAKIIFA

Rat                           VTHCSFPQWWHEAFYNFFTFSCLFIIPLLIMLICNAKIIFA

Pig                           VTHGSFPQWWHQAFYNFFTFSCLFIIPLLIMLICNAKIMFT

Bovine                        VTHCSFPQWWHQAFYNFFTFSCLFIIPLLIMVICNAKIIFT

Sheep                         VTHCSFPQWWHQAFYNFFTFSCLFIIPLLIMLICNAKIIFT

Horse                         VTHCSFPQWWHQAFYNFFTFSCLFIIPLLFMLICNAKIIFT

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 1 – 328 Gonadotropin-releasing hormone receptor
Transmembrane 213 – 232 Helical; Name=5
Alternative sequence 176 – 328 YIFRMIHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTRVLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRLSDPVNHFFFLFAFLNPCFDPLIYGYFSL -> PLHHPSFHHADLQCKNHLHPDTGPSSGPPRTTTESVQEQYTKSTAEDSKNDGCICHFIYCLLDSLLCPRNLVLV. In isoform 2.
Helix 205 – 217


Literature citations

The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred.
de Roux N.; Young J.; Brailly-Tabard S.; Misrahi M.; Milgrom E.; Schaison G.;
J. Clin. Endocrinol. Metab. 84:567-572(1999)
Cited for: VARIANTS HH7 ARG-106; ARG-217 AND GLN-262; CHARACTERIZATION OF VARIANTS HH7 ARG-106; ARG-217 AND GLN-262;

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.