UniProtKB/Swiss-Prot Q9H2U1: Variant p.Ser416Cys

ATP-dependent DNA/RNA helicase DHX36
Gene: DHX36
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Variant information Variant position:

416 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 Serine (S) to Cysteine (C) at position 416 (S416C, p.Ser416Cys). 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 small size and polar (S) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 rs9438 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1008 The length of the canonical sequence.
Location on the sequence:

YLLEDVIEKIRYVPEQKEHR S QFKRGFMQGHVNRQEKEEKE 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                         YLLEDVIEKIRYVPEQKEHRSQFKRGFMQGHVNRQEKEEKE

Mouse                         YLLEDIIEKIRYVPDQKEHRSQFKRGFMQGHVNRQEKEEKE

Rat                           YLLEDIIEKIRYFPEQKEHRSQFKRGFMQGHVNRQEKEEKE

Bovine                        YLLEDIIEKIRYVPEQKEHRSQFKKGFMQGHVNRQEKEEKE

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 – 1008	ATP-dependent DNA/RNA helicase DHX36
Region	387 – 628	RecA-like domain 2

Literature citations
Molecular cloning and characterization of human DDX36 and mouse Ddx36 genes, new members of the DEAD/H box superfamily.
Fu J.-J.; Li L.-Y.; Lu G.-X.;
Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 34:655-661(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANT CYS-416; Facilitation of mRNA deadenylation and decay by the exosome-bound, DExH protein RHAU.
Tran H.; Schilling M.; Wirbelauer C.; Hess D.; Nagamine Y.;
Mol. Cell 13:101-111(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); FUNCTION; AU-RICH RNA-BINDING; SUBCELLULAR LOCATION; ACTIVITY REGULATION; ALTERNATIVE SPLICING; TISSUE SPECIFICITY; INTERACTION WITH ELAVL1; ILF3; PARN; EXOSC3 AND EXOSC10; MUTAGENESIS OF GLU-335; VARIANT CYS-416; NUCLEAR LOCALIZATION SIGNAL; IDENTIFICATION BY MASS SPECTROMETRY; 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 3); VARIANTS CYS-416 AND ASN-583;

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.