Variant position: 485 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 511 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 QGPYENRTVFETLDIGWQLL RIFPKEMLKRIPQSTLSEFYP
Mouse QGPYENRTVYETLDIGWQLL RIFPKEMLKRIPQSTLSEFYP
Rat QGPYENRTVYETLDIGWQLL RIFPKEMLKRIPQSTLSEFYP
Bovine QGPYENRTVYETLDIGWQLL RIFPKEMLKRIPQSTLSEFYP
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 – 511 V-type proton ATPase subunit B, brain isoform
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortuem F.; Caputo V.; Bauer C.K.; Stella L.; Ciolfi A.; Alawi M.; Bocchinfuso G.; Flex E.; Paolacci S.; Dentici M.L.; Grammatico P.; Korenke G.C.; Leuzzi V.; Mowat D.; Nair L.D.; Nguyen T.T.; Thierry P.; White S.M.; Dallapiccola B.; Pizzuti A.; Campeau P.M.; Tartaglia M.; Kutsche K.;
Nat. Genet. 47:661-667(2015)
Cited for: INVOLVEMENT IN ZLS2; VARIANT ZLS2 PRO-485;
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