UniProtKB/Swiss-Prot Q92620: Variant p.Thr1217Ala

Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16
Gene: DHX38
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Variant information Variant position:

1217 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 Threonine (T) to Alanine (A) at position 1217 (T1217A, p.Thr1217Ala). 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 polar (T) 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

Sequence information Variant position:

1217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1227 The length of the canonical sequence.
Location on the sequence:

GSVRSTKIYTPGRKEQGEPM T PRRTPARFGL 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                         GSVRSTKIYTPGRKEQGEPMTPRRTPARFGL

Bovine                        GSVRSTKIYTPGRKEQGEPMTPRRTPARFGL

Baker's yeast                 LNGKENSM---------KPF-KRRKP---FF

Fission yeast                 KSKRKSVI-------RAKP--PRRVR---GF

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	2 – 1227	Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16
Region	1155 – 1227	Disordered

Literature citations
Human homologs of yeast prp16 and prp17 reveal conservation of the mechanism for catalytic step II of pre-mRNA splicing.
Zhou Z.; Reed R.;
EMBO J. 17:2095-2106(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; VARIANT ALA-1217; Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.
Nagase T.; Seki N.; Ishikawa K.; Ohira M.; Kawarabayasi Y.; Ohara O.; Tanaka A.; Kotani H.; Miyajima N.; Nomura N.;
DNA Res. 3:321-329(1996)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ALA-1217;

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.