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UniProtKB/Swiss-Prot Q6UX65: Variant p.His121Leu

DNA damage-regulated autophagy modulator protein 2
Gene: DRAM2
Variant information

Variant position:  121
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Histidine (H) to Leucine (L) at position 121 (H121L, p.His121Leu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (H) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CORD21.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  121
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:   LSCLGLSIVANFQKTTLFAA  H VSGAVLTFGMGSLYMFVQTI
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                         LSCLGLSIVANFQKTTLFAAHVSGAVLTFGMGSLYMFVQTI

Mouse                         LSCLGLSLVANFQKSTLFIVHVCGAVLAFSMGSFYMFVQTI

Rat                           LSCLGLSLVANFQKSALFIVHVCGAVLAFSMGSFYMFVQTI

Bovine                        LSCLGLSLVANFQKTTFFAVHVCGAVLTFGMGSLYMFVQTI

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.

TypePositionsDescription
Chain 1 – 266 DNA damage-regulated autophagy modulator protein 2
Transmembrane 118 – 138 Helical


Literature citations

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;

Disclaimer: 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.