UniProtKB/Swiss-Prot Q6UXG3: Variant p.Asp221Asn

CMRF35-like molecule 9
Gene: CD300LG
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Variant information Variant position:

221 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 Aspartate (D) to Asparagine (N) at position 221 (D221N, p.Asp221Asn). 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 acidic (D) to medium size and polar (N) 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 rs17852267 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TSPHPATSPPAGSSRPPMQL D STSAEDTSPALSSGSSKPRV 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                         TSPHPATSPPAGSSRPPMQLDSTSAEDTSPALSSGSSKPRV

Mouse                         --------PEPRSSRPVVWLPLTTPQD-SRAVASSVSKPSV

Bovine                        TSLHPATSPPAGISQPATQLDSTSTED-TSFVPSSSSKSRV

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	19 – 332	CMRF35-like molecule 9
Topological domain	19 – 247	Extracellular
Region	146 – 239	Disordered
Compositional bias	189 – 239	Polar residues
Glycosylation	201 – 201	O-linked (GalNAc...) threonine
Glycosylation	202 – 202	O-linked (GalNAc...) serine
Glycosylation	207 – 207	O-linked (GalNAc...) threonine
Glycosylation	208 – 208	O-linked (GalNAc...) serine
Glycosylation	213 – 213	O-linked (GalNAc...) serine
Glycosylation	214 – 214	O-linked (GalNAc...) serine
Glycosylation	222 – 222	O-linked (GalNAc...) serine
Glycosylation	223 – 223	O-linked (GalNAc...) threonine
Glycosylation	224 – 224	O-linked (GalNAc...) serine
Glycosylation	228 – 228	O-linked (GalNAc...) threonine
Glycosylation	229 – 229	O-linked (GalNAc...) serine
Glycosylation	237 – 237	O-linked (GalNAc...) serine

Literature citations
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 1); VARIANT ASN-221;

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.