UniProtKB/Swiss-Prot Q96RS6: Variant p.Ile269Val

NudC domain-containing protein 1
Gene: NUDCD1
Feedback?

Variant information Variant position:

269 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 Isoleucine (I) to Valine (V) at position 269 (I269V, p.Ile269Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs2980618 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YKSLTFVQAGQDLEENMDED I SEKIKEPLYYWQQTEDDLTV 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                         YKSLTFVQAGQD-LEENMDEDISEKIK-EPLYYWQQTEDDLTV

Mouse                         YKSFKVISGDQD-LEENMDEDRPEKIKVEPLYYWQQSEDDL

Xenopus laevis                YKPFRFIANEKDPHEPSEDEKMDEDNKREPLYNWQQTGEEV

Xenopus tropicalis            YKPFRFIANDKDQPESSEDEKMDEDNKREPLYNWHQTGEDV

Zebrafish                     EKPFAFTEVDGLPLEEPPVQDMEVGNS-DPIYFWQQTEEDV

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 – 583	NudC domain-containing protein 1

Literature citations
CML66, a broadly immunogenic tumor antigen, elicits a humoral immune response associated with remission of chronic myelogenous leukemia.
Yang X.-F.; Wu C.J.; McLaughlin S.; Chillemi A.; Wang K.S.; Canning C.; Alyea E.P.; Kantoff P.; Soiffer R.J.; Dranoff G.; Ritz J.;
Proc. Natl. Acad. Sci. U.S.A. 98:7492-7497(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; MISCELLANEOUS; VARIANTS PHE-252 AND VAL-269; A novel mechanism of alternative promoter and splicing regulates the epitope generation of tumor antigen CML66-L.
Yan Y.; Phan L.; Yang F.; Talpaz M.; Yang Y.; Xiong Z.; Ng B.; Timchenko N.A.; Wu C.J.; Ritz J.; Wang H.; Yang X.-F.;
J. Immunol. 172:651-660(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); TISSUE SPECIFICITY; MISCELLANEOUS; VARIANTS PHE-252 AND VAL-269; CML66, a novel tumor antigen elicits humoral immune response associated with remission of chronic myelogenous leukemia.
Yang X.-F.; Wu C.J.; Ritz J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS PHE-252 AND VAL-269; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 195-583; VARIANTS PHE-252; VAL-269; HIS-394 AND SER-426;

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.