Variant position: 639 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1435 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 NAMGDAGAKLLAKALRVNSR LRSVVWDRNHTSALGLLDVAQ
Mouse NAIGDAGAKMLAKALRVNTR LRSVIWDRNNTSALGLLDVAQ
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 – 1435 Capping protein, Arp2/3 and myosin-I linker protein 2
636 – 660 LRR 15
573 – 667 Tropomodulin-like
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.
Sorte H.S.; Osnes L.T.; Fevang B.; Aukrust P.; Erichsen H.C.; Backe P.H.; Abrahamsen T.G.; Kittang O.B.; Oeverland T.; Jhangiani S.N.; Muzny D.M.; Vigeland M.D.; Samarakoon P.; Gambin T.; Akdemir Z.H.; Gibbs R.A.; Roedningen O.K.; Lyle R.; Lupski J.R.; Stray-Pedersen A.;
Mol. Genet. Genomic Med. 4:604-616(2016)
Cited for: INVOLVEMENT IN IMD58; VARIANT IMD58 HIS-639;
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