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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00292: Variant p.Ser342Asn

Left-right determination factor 2
Gene: LEFTY2
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Variant information Variant position: help 342
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Asparagine (N) at position 342 (S342N, p.Ser342Asn).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (N)
BLOSUM score: help 1
Variant description: help In LRAM.
Other resources: help


Sequence information Variant position: help 342
Protein sequence length: help 366
Location on the sequence: help ASLPMIVSIKEGGRTRPQVV S LPNMRVQKCSCASDGALVPR
Residue conservation: help 
Human                         ASLPMIVSIKEGGRTRPQVVSLPNMRVQKCSCASDGALVPR

Mouse                         TSLPMIVSVKEGGRTRPQVVSLPNMRVQTCSCASDGALIPR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 77 – 366 Left-right determination factor 2
Disulfide bond 293 – 351
Disulfide bond 297 – 353



Literature citations
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.
Kosaki K.; Bassi M.T.; Kosaki R.; Lewin M.; Belmont J.; Schauer G.; Casey B.;
Am. J. Hum. Genet. 64:712-721(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT LRAM ASN-342;
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.