Variant position: 141 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 CKRQLATGDEFYLMEDSRLV CKADYETAKQREAEATAKRPR
Mouse CKRQLATGDEFYLMEDSRLV CKADYETAKQREAEATAKRPR
Chicken CKRQLATGDEFYLMEDSRLV CKADYETAKQREAESTAKRPR
Xenopus laevis CKRQLATGDEFYLMEDSRLV CKADYETAKQREAESTAKRPR
Zebrafish CKRQLATGDEYYLMEDSRLV CKADYETAKQREADSTAKRPR
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
90 – 144 LIM zinc-binding 2
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.
Ramzan K.; Bin-Abbas B.; Al-Jomaa L.; Allam R.; Al-Owain M.; Imtiaz F.;
BMC Endocr. Disord. 17:17-17(2017)
Cited for: VARIANTS CPHD3 PHE-141 AND 151-ARG--PHE-397 DEL;
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