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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Cysteine (C) at position 84 (R84C, p.Arg84Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
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.
Other resources: help


Sequence information Variant position: help 84
Protein sequence length: help 390
Location on the sequence: help LADRCFSRAGSVYCKEDFFK R FGTKCTACQQGIPPTQVVRK
Residue conservation: help 
Human                         LADRCFSRAGSVYCKEDFFKRFGTKCTACQQGIPPTQVVRK

Mouse                         LADRCFSRAGSVYCKEDFFKRFGTKCTACQQGIPPTQVVRK
Sequence annotation in neighborhood: help
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.