Variant position: 82 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 993 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 VIAALNSRTGEILWRHVDKG TAEGAVDAMLLHGQDVITVSN
Mouse VIAALNSRTGEILWRHVDKG TAEGAVDAMLVHGQDAITVSN
Chicken VVAALNSRSGEILWRHADKA TPEGAIDAMLIHGQDAITVSS
Xenopus laevis IIAALNSRTGDLLWRHVDKD TSEGTVDALMMIGQDAITVS-
Baker's yeast LVSSFNVSSGQILFRNV--- --------------LPFTID-
Fission yeast LLAKLNASNGDVIWRQS--- -IAPETSQLNYNPVTNFIITV
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
22 – 993 ER membrane protein complex subunit 1
22 – 958 Extracellular
74 – 96 LWRHVDKGTAEGAVDAMLLHGQD -> Y. In isoform 4.
Monoallelic and biallelic variants in EMC1 identified in individuals with global developmental delay, hypotonia, scoliosis, and cerebellar atrophy.
Harel T.; Yesil G.; Bayram Y.; Coban-Akdemir Z.; Charng W.L.; Karaca E.; Al Asmari A.; Eldomery M.K.; Hunter J.V.; Jhangiani S.N.; Rosenfeld J.A.; Pehlivan D.; El-Hattab A.W.; Saleh M.A.; LeDuc C.A.; Muzny D.; Boerwinkle E.; Gibbs R.A.; Chung W.K.; Yang Y.; Belmont J.W.; Lupski J.R.;
Am. J. Hum. Genet. 98:562-570(2016)
Cited for: INVOLVEMENT IN CAVIPMR; VARIANTS CAVIPMR MET-82; ARG-471 AND ARG-868;
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.