Variant position: 143 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 494 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 GSEKETMQNLNDRLASYLDK VRALEEANTELENKIREWYET
Mouse GSEKETMQNLNDRLASYLGK VRSLEEANAELENKIREWYET
Rat GSEKETMQNLNDRLASYLGK VRALEEANAELENKIREWYET
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.
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
Irvine A.D.; Corden L.D.; Swensson O.; Swensson B.; Moore J.E.; Frazer D.G.; Smith F.J.D.; Knowlton R.G.; Christophers E.; Rochels R.; Uitto J.; McLean W.H.I.;
Nat. Genet. 16:184-187(1997)
Cited for: VARIANTS MECD1 THR-135 AND LEU-143;
A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
Nielsen K.; Orntoft T.; Hjortdal J.; Rasmussen T.; Ehlers N.;
Cited for: VARIANTS SER-15 AND TRP-20; VARIANT MECD1 LEU-143;
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