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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78312: Variant p.Met192Val

Protein FAM193A
Gene: FAM193A
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Variant information Variant position: help 192
Type of variant: help LB/B
Residue change: help From Methionine (M) to Valine (V) at position 192 (M192V, p.Met192Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 192
Protein sequence length: help 1265
Location on the sequence: help QLTNKKAVTGENNFTDTMRH M LSSRLSMPDCPNCNYRRRCA
Residue conservation: help 
Human                         QLTNKKAVTGENNFTDTMRHMLSSRLSMPDCPNCNYRRRCA

Mouse                         QLTNKKVVTGENNFTDTRRHMLSSRLSMPDCPNCNYRRRCA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1265 Protein FAM193A



Literature citations
The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3.
Hadano S.; Ishida Y.; Ikeda J.-E.;
DNA Res. 5:177-186(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4); VARIANT VAL-192;
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.