UniProtKB/Swiss-Prot Q9H4L7: Variant p.Val301Ala

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1
Gene: SMARCAD1
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Variant information Variant position:

301 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Valine (V) to Alanine (A) at position 301 (V301A, p.Val301Ala). 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 medium size and hydrophobic (V) to small size and hydrophobic (A) 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
Other resources:

Links to websites of interest for the variant.

Variant rs7439869 [ dbSNP | Ensembl ]

Sequence information Variant position:

301 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1026 The length of the canonical sequence.
Location on the sequence:

MYTEALESLKVFAEDQDMQY V SQSEVPNGKEVSSRSQNYPK 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                         MYTEALESLKVFAEDQD--MQYVSQSEVPNGKEVSSRSQNYPK

Mouse                         MYTEALESLKVFAEDQD--VQCASQSEVTNGKEV-ARNQNY

Rat                           MYTEALESLKVFAEDQD--VQCASQSEVTNGKEV-ARNQNY

Bovine                        MYTEALESLKVFAEDQD--MQYASPSEFPNGKEVSSRSQNY

Xenopus tropicalis            SFHEALEALKLFAEDETDALQNAAKKEVSNGKEFSRSNKND

Caenorhabditis elegans        ------------EEDEDD-----------------MNADGD

Drosophila                    ---DVAASVRYLREN--------------------CKPKGH

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
Chain	1 – 1026	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1
Modified residue	302 – 302	Phosphoserine
Alternative sequence	1 – 430	Missing. In isoform 3.

Literature citations
SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22-q23, a band rich in breakpoints and deletion mutants involved in several human diseases.
Adra C.N.; Donato J.-L.; Badovinac R.; Syed F.; Kheraj R.; Cai H.; Moran C.; Kolker M.T.; Turner H.; Weremowicz S.; Shirakawa T.; Morton C.C.; Schnipper L.E.; Drews R.;
Genomics 69:162-173(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANT ALA-301; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANTS ASN-247; ALA-301; GLN-351 AND ALA-972; ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
Matsuoka S.; Ballif B.A.; Smogorzewska A.; McDonald E.R. III; Hurov K.E.; Luo J.; Bakalarski C.E.; Zhao Z.; Solimini N.; Lerenthal Y.; Shiloh Y.; Gygi S.P.; Elledge S.J.;
Science 316:1160-1166(2007)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-124; SER-127; SER-132 AND SER-302; VARIANT [LARGE SCALE ANALYSIS] ALA-301; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Toward a comprehensive characterization of a human cancer cell phosphoproteome.
Zhou H.; Di Palma S.; Preisinger C.; Peng M.; Polat A.N.; Heck A.J.; Mohammed S.;
J. Proteome Res. 12:260-271(2013)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-71; SER-79; SER-146; SER-152; SER-211; SER-239 AND SER-302; VARIANT [LARGE SCALE ANALYSIS] ALA-301; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Gauci S.; Helbig A.O.; Slijper M.; Krijgsveld J.; Heck A.J.; Mohammed S.;
Anal. Chem. 81:4493-4501(2009)
Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-301; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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