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UniProtKB/Swiss-Prot Q8IYD8: Variant p.Val878Leu

Fanconi anemia group M protein
Gene: FANCM
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Variant information Variant position: help 878
Type of variant: help LB/B
Residue change: help From Valine (V) to Leucine (L) at position 878 (V878L, p.Val878Leu).
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 878
Protein sequence length: help 2048
Location on the sequence: help SKEIKKDQLKKENNHGIIDS V DNDRNSTVENIFQEDLPNDK
Residue conservation: help 
Human                         SKEIKKDQL----KKENNHGIIDSVDNDRNSTVENIFQEDLPNDK---

Mouse                         CRAGRKGQTCEHSEGEGEDGDAGSSDADGQSPAEADSQVDP

Chicken                       GLDLEEPEL------PTDTNGSEPCSARRLTLVASTDQGSP

Drosophila                    GMDQMNELL------QGDNSGAEISFRDELNPI---YNQSP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2048 Fanconi anemia group M protein
Alternative sequence 670 – 2048 Missing. In isoform 2.



Literature citations
Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Kikuno R.; Nakayama M.; Hirosawa M.; Ohara O.;
DNA Res. 7:273-281(2000)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 794-2048 (ISOFORM 1); VARIANTS LEU-878 AND ALA-1812;
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.