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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot A6NHR9: Variant p.Arg552Gln

Structural maintenance of chromosomes flexible hinge domain-containing protein 1
Gene: SMCHD1
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Variant information Variant position: help 552
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 552 (R552Q, p.Arg552Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In BAMS; no change in protein abundance; does not affect ATPase activity.
Other resources: help


Sequence information Variant position: help 552
Protein sequence length: help 2005
Location on the sequence: help ELKLKDKNTLFTRILNGQEQ R MKIDREFALWLKDCHEKYDK
Residue conservation: help 
Human                         ELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDK

Mouse                         ELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKHDK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 2005 Structural maintenance of chromosomes flexible hinge domain-containing protein 1
Region 111 – 702 ATPase activity domain
Alternative sequence 1 – 1065 Missing. In isoform 3.
Beta strand 549 – 552



Literature citations
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw N.D.; Brand H.; Kupchinsky Z.A.; Bengani H.; Plummer L.; Jones T.I.; Erdin S.; Williamson K.A.; Rainger J.; Stortchevoi A.; Samocha K.; Currall B.B.; Dunican D.S.; Collins R.L.; Willer J.R.; Lek A.; Lek M.; Nassan M.; Pereira S.; Kammin T.; Lucente D.; Silva A.; Seabra C.M.; Chiang C.; An Y.; Ansari M.; Rainger J.K.; Joss S.; Smith J.C.; Lippincott M.F.; Singh S.S.; Patel N.; Jing J.W.; Law J.R.; Ferraro N.; Verloes A.; Rauch A.; Steindl K.; Zweier M.; Scheer I.; Sato D.; Okamoto N.; Jacobsen C.; Tryggestad J.; Chernausek S.; Schimmenti L.A.; Brasseur B.; Cesaretti C.; Garcia-Ortiz J.E.; Buitrago T.P.; Silva O.P.; Hoffman J.D.; Muehlbauer W.; Ruprecht K.W.; Loeys B.L.; Shino M.; Kaindl A.M.; Cho C.H.; Morton C.C.; Meehan R.R.; van Heyningen V.; Liao E.C.; Balasubramanian R.; Hall J.E.; Seminara S.B.; Macarthur D.; Moore S.A.; Yoshiura K.I.; Gusella J.F.; Marsh J.A.; Graham J.M. Jr.; Lin A.E.; Katsanis N.; Jones P.L.; Crowley W.F. Jr.; Davis E.E.; FitzPatrick D.R.; Talkowski M.E.;
Nat. Genet. 49:238-248(2017)
Cited for: INVOLVEMENT IN BAMS; VARIANTS BAMS PRO-107; LYS-129; ASN-135; CYS-135; ILE-135; ASP-136; GLU-137; HIS-139; PHE-141; VAL-171; GLY-242; ARG-345; ARG-348; LEU-400; VAL-420; GLN-473; LYS-523; SER-524 AND GLN-552; CHARACTERIZATION OF VARIANTS BAMS PRO-107; LYS-129; ASN-135; CYS-135; ILE-135; ASP-136; GLU-137; HIS-139; PHE-141; VAL-171; GLY-242; ARG-345; ARG-348; LEU-400; VAL-420; GLN-473; LYS-523; SER-524 AND GLN-552; De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon C.T.; Xue S.; Yigit G.; Filali H.; Chen K.; Rosin N.; Yoshiura K.I.; Oufadem M.; Beck T.J.; McGowan R.; Magee A.C.; Altmueller J.; Dion C.; Thiele H.; Gurzau A.D.; Nuernberg P.; Meschede D.; Muehlbauer W.; Okamoto N.; Varghese V.; Irving R.; Sigaudy S.; Williams D.; Ahmed S.F.; Bonnard C.; Kong M.K.; Ratbi I.; Fejjal N.; Fikri M.; Elalaoui S.C.; Reigstad H.; Bole-Feysot C.; Nitschke P.; Ragge N.; Levy N.; Tuncbilek G.; Teo A.S.; Cunningham M.L.; Sefiani A.; Kayserili H.; Murphy J.M.; Chatdokmaiprai C.; Hillmer A.M.; Wattanasirichaigoon D.; Lyonnet S.; Magdinier F.; Javed A.; Blewitt M.E.; Amiel J.; Wollnik B.; Reversade B.;
Nat. Genet. 49:249-255(2017)
Cited for: VARIANTS BAMS SER-134; ASN-135; CYS-135; GLY-136; SER-342; ARG-348; VAL-420; GLU-518 AND GLN-552; CHARACTERIZATION OF VARIANTS BAMS SER-134; CYS-135; GLY-136 AND VAL-420; CHARACTERIZATION OF VARIANTS FSHD2 CYS-353 AND MET-527; FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
Gurzau A.D.; Chen K.; Xue S.; Dai W.; Lucet I.S.; Ly T.T.N.; Reversade B.; Blewitt M.E.; Murphy J.M.;
J. Biol. Chem. 293:9841-9853(2018)
Cited for: VARIANTS FSHD2 PHE-194; ASP-263; CYS-283; CYS-353; GLU-478; MET-527 AND SER-690; VARIANTS BAMS ASN-135; GLU-137; SER-342; ARG-348; VAL-420; GLN-473; GLU-518; LYS-523 AND GLN-552; CHARACTERIZATION OF VARIANTS FSHD2 PHE-194; ASP-263; CYS-283; CYS-353; GLU-478; MET-527 AND SER-690; CHARACTERIZATION OF VARIANTS BAMS ASN-135; GLU-137; SER-342; ARG-348; VAL-420; GLN-473; GLU-518; LYS-523 AND GLN-552; FUNCTION; CATALYTIC ACTIVITY;
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.