Variant position: 121 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 152 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 NEAAAIIRHLEWTDAVQLTA LVMGSEALQQQLLAMLVNYVT
Mouse NEAMAIIGNLDWTDAVQLTA LVMSNQAMQQRLLAMLTTYVT
Bovine NEATAIIRHLEWTDAVQLTM LVMGSEALQKQLLAMLANYVT
Xenopus tropicalis DDIYTIVRTLDWTDATQLIM LVMGNDSLKQKVVAALINYMT
Zebrafish EDIVAILGSITWTDVAQLTA LVMGNASLQQQVTAALLSYIH
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 – 152 Protein C19orf12
109 – 152 HLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD -> PCSSSCWPCW. In isoform 3.
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Horvath R.; Holinski-Feder E.; Neeve V.C.; Pyle A.; Griffin H.; Ashok D.; Foley C.; Hudson G.; Rautenstrauss B.; Nurnberg G.; Nurnberg P.; Kortler J.; Neitzel B.; Bassmann I.; Rahman T.; Keavney B.; Loughlin J.; Hambleton S.; Schoser B.; Lochmuller H.; Santibanez-Koref M.; Chinnery P.F.;
Mov. Disord. 27:789-793(2012)
Cited for: VARIANT NBIA4 GLN-121;
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