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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6F5E8: Variant p.Leu525Gln

Capping protein, Arp2/3 and myosin-I linker protein 2
Gene: CARMIL2
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Variant information Variant position: help 525 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Glutamine (Q) at position 525 (L525Q, p.Leu525Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (L) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In IMD58; decreased protein expression in patient's leukocytes; no effect on homodimerization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 525 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1435 The length of the canonical sequence.
Location on the sequence: help RSAGAQVIQDLVCDAGAVSS L DLADNGFGSDMVTLVLAIGR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RSAGAQVIQDLVCDAGAVSSLDLADNGFGSDMVTLVLAIGR

Mouse                         RSVGAQVIQDLVCDAGALSSLDLSDNGFGSDMVTLVLAIGR
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1435 Capping protein, Arp2/3 and myosin-I linker protein 2
Repeat 519 – 543 LRR 11



Literature citations
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
Wang Y.; Ma C.S.; Ling Y.; Bousfiha A.; Camcioglu Y.; Jacquot S.; Payne K.; Crestani E.; Roncagalli R.; Belkadi A.; Kerner G.; Lorenzo L.; Deswarte C.; Chrabieh M.; Patin E.; Vincent Q.B.; Mueller-Fleckenstein I.; Fleckenstein B.; Ailal F.; Quintana-Murci L.; Fraitag S.; Alyanakian M.A.; Leruez-Ville M.; Picard C.; Puel A.; Bustamante J.; Boisson-Dupuis S.; Malissen M.; Malissen B.; Abel L.; Hovnanian A.; Notarangelo L.D.; Jouanguy E.; Tangye S.G.; Beziat V.; Casanova J.L.;
J. Exp. Med. 213:2413-2435(2016)
Cited for: FUNCTION; SUBUNIT; TISSUE SPECIFICITY; INVOLVEMENT IN IMD58; VARIANTS IMD58 ARG-372; GLN-525 AND 853-GLN--PRO-1435 DEL; CHARACTERIZATION OF VARIANTS IMD58 ARG-372; GLN-525 AND 853-GLN--PRO-1435 DEL;
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.