Variant position: 210 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 397 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 LSSETGLDMRVVQVWFQNRR AKEKRLKKDAGRQRWGQYFRN
Mouse LSSETGLDMRVVQVWFQNRR AKEKRLKKDAGRQRWGQYFRN
Chicken LSSETGLDMRVVQVWFQNRR AKEKRLKKDAGRQRWGQYFRN
Xenopus laevis LSSETGLDMRVVQVWFQNRR AKEKRLKKDAGRQRWGQYFRN
Zebrafish LSTETGLDMRVVQVWFQNRR AKEKRLKKDAGRQRWGQYFRN
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
1 – 397 LIM/homeobox protein Lhx3
157 – 216 Homeobox
227 – 227 Phosphotyrosine
Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
Pfaeffle R.W.; Savage J.J.; Hunter C.S.; Palme C.; Ahlmann M.; Kumar P.; Bellone J.; Schoenau E.; Korsch E.; Braemswig J.H.; Stobbe H.M.; Blum W.F.; Rhodes S.J.;
J. Clin. Endocrinol. Metab. 92:1909-1919(2007)
Cited for: VARIANT CPHD3 VAL-210; CHARACTERIZATION OF VARIANT CPHD3 VAL-210;
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.