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UniProtKB/Swiss-Prot Q10472: Variant p.Tyr414Asp

Polypeptide N-acetylgalactosaminyltransferase 1
Gene: GALNT1
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Variant information Variant position: help 414
Type of variant: help LB/B
Residue change: help From Tyrosine (Y) to Aspartate (D) at position 414 (Y414D, p.Tyr414Asp).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and acidic (D)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 414
Protein sequence length: help 559
Location on the sequence: help GDISSRVGLRHKLQCKPFSW Y LENIYPDSQIPRHYFSLGEI
Residue conservation: help 
Human                         GDISSRVGLRH---KLQCKPFSWYLENIYPDSQIPRHY-FSLGEI

Mouse                         GDISSRLGLRR---KLQCKPFSWYLENIYPDSQIPRHY-FS

Rat                           GDISSRVGLRH---KLQCKPFSWYLENIYPDSQIPRHY-FS

Pig                           GDISSRLGLRH---KLQCRPFSWYLENIYPDSQIPRHY-SS

Bovine                        GDISSRLGLRH---KLQCRPFSWYLENIYPDSQIPRHY-FS

Caenorhabditis elegans        G--SQRTALKYINAKIKSAP--YSLKNIVSEKRIETRF---

Drosophila                    GDVTHRVMLRK---KLRCKSFEWYLKNIYPEKFVPTKDVQG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 559 Polypeptide N-acetylgalactosaminyltransferase 1
Chain 41 – 559 Polypeptide N-acetylgalactosaminyltransferase 1 soluble form
Topological domain 29 – 559 Lumenal
Alternative sequence 106 – 559 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.