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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15155: Variant p.Asn490Asp

BOS complex subunit NOMO1
Gene: NOMO1
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Variant information Variant position: help 490
Type of variant: help LB/B
Residue change: help From Asparagine (N) to Aspartate (D) at position 490 (N490D, p.Asn490Asp).
Physico-chemical properties: help Change from medium size and polar (N) to medium size and acidic (D)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 490
Protein sequence length: help 1222
Location on the sequence: help EAETRAGLTLKPQTFPLTVT N RPMMDVAFVQFLASVSGKVS
Residue conservation: help 
Human                         EAETRAGLTLKPQTFPLTVTNRPMMDVAFVQFLASVSGKVS

Mouse                         EAETRAGLMLKPQVFPLTVTNRPVMDVAFVQFLASVSGKVS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 1222 BOS complex subunit NOMO1
Topological domain 32 – 1155 Extracellular



Literature citations
Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum.
Perdu J.; Germain D.P.;
Hum. Mutat. 17:74-75(2001)
Cited for: VARIANTS VAL-404; ASN-458; ASP-490; PHE-1141 AND GLY-1195;
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