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UniProtKB/Swiss-Prot Q96E22: Variant p.Lys216Arg

Dehydrodolichyl diphosphate synthase complex subunit NUS1
Gene: NUS1
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Variant information Variant position: help 216
Type of variant: help LB/B
Residue change: help From Lysine (K) to Arginine (R) at position 216 (K216R, p.Lys216Arg).
Physico-chemical properties: help Similar physico-chemical property. Both residues are large size and basic.
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 216
Protein sequence length: help 293
Location on the sequence: help GKADIVRAAQDFCQLVAQKQ K RPTDLDVDTLASLLSSNGCP
Residue conservation: help 
Human                         GKADIVRAAQDFCQLVAQKQKRPTDLDVDTLASLL-SSNGCP

Mouse                         GKADIVRAAQDFCQLVAQQQRKPTDLDVDLLGSLL-SSHGF

Zebrafish                     GRLSIVQAAQQLCRAVEQKEKTSKDINVSVLDSLLKESKNI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 293 Dehydrodolichyl diphosphate synthase complex subunit NUS1
Mutagenesis 196 – 196 G -> A. Decreases binding to DHDDS.
Mutagenesis 197 – 197 K -> A. Decreases binding to DHDDS.
Mutagenesis 200 – 200 I -> A. Disrupts NUS1-DHDDS heterodimerization.
Mutagenesis 226 – 226 L -> A. Disrupts NUS1-DHDDS heterodimerization.
Mutagenesis 230 – 230 L -> A. Disrupts NUS1-DHDDS heterodimerization.



Literature citations
Direct isolation of human transcribed sequences from yeast artificial chromosomes through the application of RNA fingerprinting.
Still I.H.; Vince P.; Cowell J.K.;
Proc. Natl. Acad. Sci. U.S.A. 94:10373-10378(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 171-293; VARIANTS ARG-216 AND LYS-219;
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.