Variant position: 308 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 836 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 EALQYELCGLLPATAYTLQI RCIRWPLPGHWSDWSPSLELR
Mouse SKDQFELCGLHQAPVYTLQM RCIRSSLPGFWSPWSPGLQLR
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
25 – 836 Granulocyte colony-stimulating factor receptor
25 – 627 Extracellular
233 – 332 Fibronectin type-III 2
266 – 309
303 – 311
Inherited biallelic CSF3R mutations in severe congenital neutropenia.
Triot A.; Jaervinen P.M.; Arostegui J.I.; Murugan D.; Kohistani N.; Dapena Diaz J.L.; Racek T.; Puchalka J.; Gertz E.M.; Schaeffer A.A.; Kotlarz D.; Pfeifer D.; Diaz de Heredia Rubio C.; Ozdemir M.A.; Patiroglu T.; Karakukcu M.; Sanchez de Toledo Codina J.; Yaguee J.; Touw I.P.; Unal E.; Klein C.;
Cited for: INVOLVEMENT IN SCN7; VARIANT SCN7 CYS-308; CHARACTERIZATION OF VARIANT SCN7 CYS-308; SUBCELLULAR LOCATION; GLYCOSYLATION;
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.