Variant position: 217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 477 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human QLLAGGIAGAVSRTSTAPLD RLKIMMQVHGSKSDKMNIFGG
Mouse QLLAGGVAGAVSRTSTAPLD RLKVMMQVHGSKS--MNIFGG
Bovine QLLAGGVAGAVSRTSTAPLD RLKVMMQVHGSKSAKMNIYGG
Rabbit QLLAGGIAGAVSRTSTAPLD RLKVMMQVHGSKS--MNIFGG
Xenopus tropicalis QLLAGGMAGAVSRTGTAPLD RLKVMMQVHGSKGN-ANIITG
Zebrafish QLAAGGVAGAVSRTGTAPLD RMKVFMQVHSSKTNKISLVNG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 477 Calcium-binding mitochondrial carrier protein SCaMC-1
216 – 252 Mitochondrial matrix
192 – 278 Solcar 1
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Ehmke N.; Graul-Neumann L.; Smorag L.; Koenig R.; Segebrecht L.; Magoulas P.; Scaglia F.; Kilic E.; Hennig A.F.; Adolphs N.; Saha N.; Fauler B.; Kalscheuer V.M.; Hennig F.; Altmueller J.; Netzer C.; Thiele H.; Nuernberg P.; Yigit G.; Jaeger M.; Hecht J.; Krueger U.; Mielke T.; Krawitz P.M.; Horn D.; Schuelke M.; Mundlos S.; Bacino C.A.; Bonnen P.E.; Wollnik B.; Fischer-Zirnsak B.; Kornak U.;
Am. J. Hum. Genet. 101:833-843(2017)
Cited for: INVOLVEMENT IN FPS; VARIANTS FPS CYS-217 AND HIS-217; CHARACTERIZATION OF VARIANTS FPS HIS-217; FUNCTION;
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.