Variant position: 44 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 183 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 AMHYQMSVTLKYEIKKLIYV HLVIWLLLVAKMSVGHLRLLS
Mouse AMHYQMSVTLKYEIKKLIYV HLVIWLLLVAKMSVGHLRLLS
Rat AMHYQMSVTLKYEIKKLIYV HLVIWLLLVAKMSVGHLRLLS
Bovine AMHYQMSVTLKYEIKKLIYV HLVIWLLLVAKMSVGHLRLLS
Xenopus laevis AGHYKMSASLKNEIKKLIYA HLIIWMLIAAQMCVSHLKLVS
Xenopus tropicalis ASHYQMSASLKNEIKKLIYA HLVIWLLIAAQMCVSHLKLVS
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 – 183 Protein jagunal homolog 1
40 – 60 Helical
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
Boztug K.; Jaervinen P.M.; Salzer E.; Racek T.; Moench S.; Garncarz W.; Gertz E.M.; Schaeffer A.A.; Antonopoulos A.; Haslam S.M.; Schieck L.; Puchalka J.; Diestelhorst J.; Appaswamy G.; Lescoeur B.; Giambruno R.; Bigenzahn J.W.; Elling U.; Pfeifer D.; Conde C.D.; Albert M.H.; Welte K.; Brandes G.; Sherkat R.; van der Werff Ten Bosch J.; Rezaei N.; Etzioni A.; Bellanne-Chantelot C.; Superti-Furga G.; Penninger J.M.; Bennett K.L.; von Blume J.; Dell A.; Donadieu J.; Klein C.;
Nat. Genet. 46:1021-1027(2014)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH COPA; COPB2 AND COPG2; INVOLVEMENT IN SCN6; VARIANTS SCN6 SER-14; GLN-20; ASP-21; TYR-44 AND ARG-162;
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.