Variant position: 567 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 ASPRSYQDFFEAIRRRGDTF YVVSFRRDHLLLPATTHNKTT
Mouse ASPGSYQGFFDAIRRRGDTF YVVSFRRDHLLLPATTHNKTT
Rat ASPGSYQGFFDAIRRRGDTF YVVSFRRDHLLLPATTHNKTT
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
399 – 670 Lumenal
468 – 589 Interaction with THBS4
584 – 584 N-linked (GlcNAc...) asparagine
586 – 586 T -> I. Loss of glycosylation at Asn-584 and increase of Golgi translocation rate. Higher increase in Golgi translocation rate; when associated with Ile-645.
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;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.