Variant position: 324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 670 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 IAVLRRQQRMIKNRESACQS RKKKKEYMLGLEARLKAALSE
Mouse IAVLRRQQRMIKNRESACQS RKKKKEYMLGLEARLKAALSE
Rat IAVLRRQQRMIKNRESACQS RKKKKEYMLGLEARLKAALSE
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 – 670 Cyclic AMP-dependent transcription factor ATF-6 alpha
1 – 377 Cytoplasmic
306 – 369 bZIP
308 – 339 Basic motif
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S.; Zobor D.; Chiang W.C.; Weisschuh N.; Staller J.; Gonzalez Menendez I.; Chang S.; Beck S.C.; Garcia Garrido M.; Sothilingam V.; Seeliger M.W.; Stanzial F.; Benedicenti F.; Inzana F.; Heon E.; Vincent A.; Beis J.; Strom T.M.; Rudolph G.; Roosing S.; Hollander A.I.; Cremers F.P.; Lopez I.; Ren H.; Moore A.T.; Webster A.R.; Michaelides M.; Koenekoop R.K.; Zrenner E.; Kaufman R.J.; Tsang S.H.; Wissinger B.; Lin J.H.;
Nat. Genet. 47:757-765(2015)
Cited for: FUNCTION; INVOLVEMENT IN ACHM7; VARIANTS ACHM7 CYS-324 AND ASN-567; CHARACTERIZATION OF VARIANT ACHM7 CYS-324;
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