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UniProtKB/Swiss-Prot P54132: Variant p.Lys137Arg

RecQ-like DNA helicase BLM
Gene: BLM
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Variant information Variant position: help 137
Type of variant: help LB/B
Residue change: help From Lysine (K) to Arginine (R) at position 137 (K137R, p.Lys137Arg).
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 137
Protein sequence length: help 1417
Location on the sequence: help EVVCTTQNTPTVKKSRDTAL K KLEFSSSPDSLSTINDWDDM
Residue conservation: help 
Human                         EVVCTTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDM

Mouse                         DTLCTTPKTPTAKKLPVAVFKKLEFSSSADSLS---DWADM

Chicken                       -----------------------------------------

Xenopus laevis                DHVHGNDSANKPPSTEDAASKKTGINTSFGSVTSLEEWDDL

Caenorhabditis elegans        -----------------------------------------

Drosophila                    ----SDRDSPKKPVQNENSYTYRGLSESPVENKSIGD--TL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1417 RecQ-like DNA helicase BLM
Cross 129 – 129 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-137; MET-298; GLN-591; LEU-868; ILE-1205; LYS-1213 AND ILE-1321;
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.