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UniProtKB/Swiss-Prot Q03164: Variant p.Val3714Ile

Histone-lysine N-methyltransferase 2A
Gene: KMT2A
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Variant information Variant position: help 3714
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 3714 (V3714I, p.Val3714Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 3714
Protein sequence length: help 3969
Location on the sequence: help TDKVQEARSNARLKQLSFAG V NGLRMLGILHDAVVFLIEQL
Residue conservation: help 
Human                         TDKVQEARSNARLKQLSFAGVNGLRMLGILHDAVVFLIEQL

Mouse                         TDKVQEARSNARLKQLSFAGVNGLRMLGILHDAVVFLIEQL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 3969 Histone-lysine N-methyltransferase 2A
Chain 2719 – 3969 MLL cleavage product C180
Domain 3666 – 3747 FYR C-terminal



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-53; LYS-502; THR-2319; ARG-2354; ARG-2387; ILE-3714 AND ALA-3773;
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.