Variant position: 362 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 736 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 TEYCNTIEGTAKYIETSELC GGARICYIFHETFGRTLESVD
Mouse TEYCNTIEGTAKYIETSELC GGARICYIFHETFGRTLESVD
Rat TEYCNTIEGTAKYIETSELC GGARICYIFHETFGRTLESVD
Bovine TEYCNTIEGTAKYIETSELC GGARICYIFHETFGRTLESVD
Zebrafish TEYCNTIEGTAKYIETAELC GGARICYIFHETFGRTLESVD
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 – 736 Dynamin-1-like protein
344 – 489 Middle domain
345 – 345 C -> A. No effect on S-nitrosylation.
361 – 361 C -> A. No effect on S-nitrosylation.
367 – 367 C -> A. No effect on S-nitrosylation.
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
Sheffer R.; Douiev L.; Edvardson S.; Shaag A.; Tamimi K.; Soiferman D.; Meiner V.; Saada A.;
Am. J. Med. Genet. A 170:1603-1607(2016)
Cited for: VARIANT EMPF1 SER-362; CHARACTERIZATION OF VARIANT EMPF1 SER-362; FUNCTION;
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.