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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8TDX6: Variant p.Val137Ile

Chondroitin sulfate N-acetylgalactosaminyltransferase 1
Gene: CSGALNACT1
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Variant information Variant position: help 137
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 137 (V137I, p.Val137Ile).
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 137
Protein sequence length: help 532
Location on the sequence: help QADLLAFLHSQVDKAEVNAG V KLATEYAAVPFDSFTLQKVY
Residue conservation: help
Human                         QADLLAFLHSQVDKAEVNAGVKLATEYAAVPFDSFTLQKVY

Mouse                         QADLLAFLRGQVDKAEVHAGVKLATEYAAVPFDSFTLQKVY

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 532 Chondroitin sulfate N-acetylgalactosaminyltransferase 1
Topological domain 36 – 532 Lumenal
Alternative sequence 1 – 257 Missing. In isoform 2.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.