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UniProtKB/Swiss-Prot Q96GM5: Variant p.Phe495Leu

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
Gene: SMARCD1
Variant information

Variant position:  495
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Phenylalanine (F) to Leucine (L) at position 495 (F495L, p.Phe495Leu).
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:  Change from large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  In CSS11; does not affect the interaction with SMARCC1 and SMARCA4.
Any additional useful information about the variant.



Sequence information

Variant position:  495
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  515
The length of the canonical sequence.

Location on the sequence:   EERRAEFYFQPWAQEAVCRY  F YSKVQQRRQELEQALGIRNT
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                         EERRAEFYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT

Mouse                         EERRAEFYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT

Bovine                        EERRAEFYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT

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.

TypePositionsDescription
Chain 1 – 515 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
Region 180 – 515 Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo
Helix 487 – 504


Literature citations

A syndromic neurodevelopmental disorder caused by mutations in SMARCD1, a core SWI/SNF subunit needed for context-dependent neuronal gene regulation in flies.
Nixon K.C.J.; Rousseau J.; Stone M.H.; Sarikahya M.; Ehresmann S.; Mizuno S.; Matsumoto N.; Miyake N.; Baralle D.; McKee S.; Izumi K.; Ritter A.L.; Heide S.; Heron D.; Depienne C.; Titheradge H.; Kramer J.M.; Campeau P.M.;
Am. J. Hum. Genet. 104:596-610(2019)
Cited for: VARIANTS CSS11 GLU-330; GLY-446; 486-TRP--THR-515 DEL; LEU-495 AND 503-ARG--THR-515 DEL; CHARACTERIZATION OF VARIANTS CSS11 GLU-330; 486-TRP--THR-515 DEL AND LEU-495; INVOLVEMENT IN CSS11; INTERACTION WITH SMARCA4 AND SMARCC1;

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.