UniProtKB/Swiss-Prot Q9NYC9: Variant p.Gly1674Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 1674 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: US 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 Glycine (G) to Arginine (R) at position 1674 (G1674R, p.Gly1674Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -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: In CILD40; uncertain significance. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs140721719 [ dbSNP | Ensembl ]

Sequence information

Variant position: 1674 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4486 The length of the canonical sequence.
Location on the sequence: LGMYSKEEEYVAFSEPCDCS G QVEIWLNHVLGHMKATVRHE 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.
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 – 4486	Dynein axonemal heavy chain 9
Region	1 – 1831	Stem
Alternative sequence	1 – 3688	Missing. In isoform 3.

Literature citations

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects.
Loges N.T.; Antony D.; Maver A.; Deardorff M.A.; Guelec E.Y.; Gezdirici A.; Noethe-Menchen T.; Hoeben I.M.; Jelten L.; Frank D.; Werner C.; Tebbe J.; Wu K.; Goldmuntz E.; Cuturilo G.; Krock B.; Ritter A.; Hjeij R.; Bakey Z.; Pennekamp P.; Dworniczak B.; Brunner H.; Peterlin B.; Tanidir C.; Olbrich H.; Omran H.; Schmidts M.;
Am. J. Hum. Genet. 103:995-1008(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH ODAD1; INVOLVEMENT IN CILD40; VARIANTS CILD40 666-TRP--ILE-4486 DEL; ARG-1674; 2751-GLN--ILE-4486 DEL AND 3889-SER--ILE-4486 DEL; CHARACTERIZATION OF VARIANT CILD40 2751-GLN--ILE-4486 DEL;