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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q969G2: Variant p.Arg84Cys

LIM/homeobox protein Lhx4
Gene: LHX4
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Variant information Variant position: help 84 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 Arginine (R) to Cysteine (C) at position 84 (R84C, p.Arg84Cys). 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 large size and basic (R) to medium size and polar (C) 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 CPHD4; has impaired activity on CGA, POU1F1 and TSHB promoters but exhibits normal DNA binding to the CGA pituitary glycoprotein basal element (PGBE) and interaction with the POU1F1 protein. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 84 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 390 The length of the canonical sequence.
Location on the sequence: help LADRCFSRAGSVYCKEDFFK R FGTKCTACQQGIPPTQVVRK 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                         LADRCFSRAGSVYCKEDFFKRFGTKCTACQQGIPPTQVVRK

Mouse                         LADRCFSRAGSVYCKEDFFKRFGTKCTACQQGIPPTQVVRK
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 1 – 390 LIM/homeobox protein Lhx4
Domain 28 – 87 LIM zinc-binding 1



Literature citations
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
Pfaeffle R.W.; Hunter C.S.; Savage J.J.; Duran-Prado M.; Mullen R.D.; Neeb Z.P.; Eiholzer U.; Hesse V.; Haddad N.G.; Stobbe H.M.; Blum W.F.; Weigel J.F.W.; Rhodes S.J.;
J. Clin. Endocrinol. Metab. 93:1062-1071(2008)
Cited for: VARIANTS CPHD4 CYS-84; ARG-190 AND PRO-210; CHARACTERIZATION OF VARIANTS CPHD4 CYS-84; ARG-190 AND PRO-210;
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.