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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IWC1: Variant p.Lys561Arg

MAP7 domain-containing protein 3
Gene: MAP7D3
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Variant information Variant position: help 561
Type of variant: help LB/B
Residue change: help From Lysine (K) to Arginine (R) at position 561 (K561R, p.Lys561Arg).
Physico-chemical properties: help Similar physico-chemical property. Both residues are large size and basic.
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 561
Protein sequence length: help 876
Location on the sequence: help KIMPIQHTLSVQSASSTVKK K KETVSKTTNRCEALSQRHMI
Residue conservation: help 
Human                         KIMPIQHTLSVQSASSTVKKKKETVSKTTNRCEALSQRHMI

Mouse                         KITPVQNVLYVPNSLGVIATKKETI-----------QKYPI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 876 MAP7 domain-containing protein 3
Coiled coil 558 – 640



Literature citations
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
Park H.J.; Hong Y.B.; Choi Y.C.; Lee J.; Kim E.J.; Lee J.S.; Mo W.M.; Ki S.M.; Kim H.I.; Kim H.J.; Hyun Y.S.; Hong H.D.; Nam K.; Jung S.C.; Kim S.B.; Kim S.H.; Kim D.H.; Oh K.W.; Kim S.H.; Yoo J.H.; Lee J.E.; Chung K.W.; Choi B.O.;
Ann. Neurol. 79:231-243(2016)
Cited for: VARIANT ARG-561;
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.