Variant position: 376 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 995 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 LCPDTETRLNAAYSFGTTYQ QNCEIPISKILIDFPTPIFYD
Mouse LCPDTERRLDAAYAFGTTYQ QNCEISLSKLLVDFSSPVFYD
Rat LCPDTERRLDAAYSFGTTYQ QNCEISLSKLLADFPSPVFYD
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
36 – 995 Meckelin
The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
Dawe H.R.; Smith U.M.; Cullinane A.R.; Gerrelli D.; Cox P.; Badano J.L.; Blair-Reid S.; Sriram N.; Katsanis N.; Attie-Bitach T.; Afford S.C.; Copp A.J.; Kelly D.A.; Gull K.; Johnson C.A.;
Hum. Mol. Genet. 16:173-186(2007)
Cited for: TISSUE SPECIFICITY; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT MKS3 PRO-376; FUNCTION; INTERACTION WITH MKS1;
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Smith U.M.; Consugar M.; Tee L.J.; McKee B.M.; Maina E.N.; Whelan S.; Morgan N.V.; Goranson E.; Gissen P.; Lilliquist S.; Aligianis I.A.; Ward C.J.; Pasha S.; Punyashthiti R.; Malik Sharif S.; Batman P.A.; Bennett C.P.; Woods C.G.; McKeown C.; Bucourt M.; Miller C.A.; Cox P.; Algazali L.; Trembath R.C.; Torres V.E.; Attie-Bitach T.; Kelly D.A.; Maher E.R.; Gattone V.H.; Harris P.C.; Johnson C.A.;
Nat. Genet. 38:191-196(2006)
Cited for: VARIANT MKS3 PRO-376; TISSUE SPECIFICITY;
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