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UniProtKB/Swiss-Prot Q86VF7: Variant p.Leu1531Pro

Nebulin-related-anchoring protein
Gene: NRAP
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Variant information Variant position: help 1531
Type of variant: help LB/B
Residue change: help From Leucine (L) to Proline (P) at position 1531 (L1531P, p.Leu1531Pro).
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 1531
Protein sequence length: help 1730
Location on the sequence: help SDKVYRNSWEQTRAGSYDFR L DAIPFQTARASREIASDFRY
Residue conservation: help 
Human                         SDKVYRNSWEQTRAGSYDFRLDAIPFQTARASREIASDFRY

Mouse                         SDKVYRNAWEQSRAGGYDFRLDAIPFQTARVSRDIASDFRY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1730 Nebulin-related-anchoring protein
Repeat 1526 – 1560 Nebulin 41



Literature citations
The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS ALA-208; CYS-249; THR-344; ARG-360; LEU-490; CYS-884; VAL-1112; VAL-1183; PRO-1531 AND CYS-1566;
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.