Variant position: 193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 226 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 TRNACHLTGGLDWIDQSLSA AEEHLEVLREAALASEPDKGL
Mouse TRNACHLTGGLDWIDQSLSA AEEHLEVLREAALASEPDKSL
Rat TRNACHLTGGLDWIDQSLSA AEEHLEVLREAALASEPDKSL
Bovine TRNACHLTGGLDWIDQSLTA AEEHLEVLREAALASEPDKGL
Xenopus laevis TKNACHLTGGMDWIDQSLSA AEDHLAVLREAALATEPERPM
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 – 226 Transmembrane protein 98
25 – 226 Extracellular
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.
Awadalla M.S.; Burdon K.P.; Souzeau E.; Landers J.; Hewitt A.W.; Sharma S.; Craig J.E.;
JAMA Ophthalmol. 132:970-977(2014)
Cited for: TISSUE SPECIFICITY; VARIANT NNO4 PRO-193;
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