Variant position: 27 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 266 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 GLSFLPSALVIWTSAAFIFS YITAVTLHHIDPALPYISDTG
Mouse GLSFLPSALVIWTFATFIFS YITAITLHHVDPALPYISDTG
Rat GLSFLPSALVIWTFATFIFS YITAITLHHVDPALPYISDTG
Bovine GLSFLPSALVIWTAAAFIFS YITAITLHHVDPVLPYISDTG
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 – 266 DNA damage-regulated autophagy modulator protein 2
8 – 28 Helical
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
El-Asrag M.E.; Sergouniotis P.I.; McKibbin M.; Plagnol V.; Sheridan E.; Waseem N.; Abdelhamed Z.; McKeefry D.; Van Schil K.; Poulter J.A.; Johnson C.A.; Carr I.M.; Leroy B.P.; De Baere E.; Inglehearn C.F.; Webster A.R.; Toomes C.; Ali M.;
Am. J. Hum. Genet. 96:948-954(2015)
Cited for: FUNCTION; TISSUE SPECIFICITY; INVOLVEMENT IN CORD21; VARIANTS CORD21 ALA-22 DEL; HIS-27; ASN-44; 73-VAL--TYR-75 DEL AND LEU-121;
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.