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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q08188: Variant p.Ser249Asn

Protein-glutamine gamma-glutamyltransferase E
Gene: TGM3
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Variant information Variant position: help 249
Type of variant: help LB/B
Residue change: help From Serine (S) to Asparagine (N) at position 249 (S249N, p.Ser249Asn).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (N)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 249
Protein sequence length: help 693
Location on the sequence: help DNGVLAGNWSGTYTGGRDPR S WNGSVEILKNWKKSGFSPVR
Residue conservation: help 
Human                         DNGVLAGNWSGTYTGGRDPRSWNGSVEILKNWKKSGFSPVR

Mouse                         DNGVISGNWSGNYTGGVDPRTWNGSVEILKNWKKSGFRPVQ

Rat                           DSGVLSGNWSGNYSGGVDPRTWNGSVEILKNWKKSGFRPVQ

Bovine                        DSGVISGNWSGSYTGGRDPRNWNGSVEILKEWQRSGFRPVR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 467 Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chain
Binding site 230 – 230
Helix 247 – 249



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LYS-13; LEU-163; ASN-249; ARG-654 AND MET-687;
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.