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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N6C5: Variant p.Cys942Arg

Immunoglobulin superfamily member 1
Gene: IGSF1
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Variant information Variant position: help 942 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Cysteine (C) to Arginine (R) at position 942 (C942R, p.Cys942Arg). 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: help Change from medium size and polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In CHTE; impairs IGSF1 trafficking to the plasma membrane. Any additional useful information about the variant.


Sequence information Variant position: help 942 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1336 The length of the canonical sequence.
Location on the sequence: help GNSADFLLHTVGAEDSGNYS C IYYETTMSNRGSYLSMPLMI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GNSADFLLHTVGAEDSGNYSCIYYETTMSNRGSYLSMPLMI

Mouse                         GTSADFLLHTVGAQDFGNYSCVYYETTMSNRGSSLSTPLMI

Rat                           GTSVDFLLHTVGAEDFGNYSCVYYETTMSNRGSYLSTPLMI
Sequence annotation in neighborhood: help 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 29 – 1336 Immunoglobulin superfamily member 1
Topological domain 581 – 1336 Extracellular
Domain 873 – 958 Ig-like C2-type 9
Glycosylation 939 – 939 N-linked (GlcNAc...) asparagine
Disulfide bond 895 – 942
Alternative sequence 243 – 1336 Missing. In isoform 3.



Literature citations
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y.; Bak B.; Schoenmakers N.; van Trotsenburg A.S.; Oostdijk W.; Voshol P.; Cambridge E.; White J.K.; le Tissier P.; Gharavy S.N.; Martinez-Barbera J.P.; Stokvis-Brantsma W.H.; Vulsma T.; Kempers M.J.; Persani L.; Campi I.; Bonomi M.; Beck-Peccoz P.; Zhu H.; Davis T.M.; Hokken-Koelega A.C.; Del Blanco D.G.; Rangasami J.J.; Ruivenkamp C.A.; Laros J.F.; Kriek M.; Kant S.G.; Bosch C.A.; Biermasz N.R.; Appelman-Dijkstra N.M.; Corssmit E.P.; Hovens G.C.; Pereira A.M.; den Dunnen J.T.; Wade M.G.; Breuning M.H.; Hennekam R.C.; Chatterjee K.; Dattani M.T.; Wit J.M.; Bernard D.J.;
Nat. Genet. 44:1375-1381(2012)
Cited for: DEVELOPMENTAL STAGE; TISSUE SPECIFICITY; VARIANTS CHTE 708-ALA--LYS-716 DEL; ASN-765; PHE-858 AND ARG-942; CHARACTERIZATION OF 708-ALA--LYS-716 DEL; ASN-765; PHE-858 AND ARG-942;
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.