UniProtKB/Swiss-Prot O43541: Variant p.Ser267Asn

Mothers against decapentaplegic homolog 6
Gene: SMAD6
Feedback?

Variant information Variant position:

267 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 Serine (S) to Asparagine (N) at position 267 (S267N, p.Ser267Asn). 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 (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
Variant description:

In RUS; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1396117157 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

CHSFAAAADGPTVCCNPYHF S RLCGPESPPPPYSRLSPRDE 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                         CHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPRDE

Mouse                         CHSFTAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPPDQ

Chicken                       CQSF-GAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPNDE

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 – 496	Mothers against decapentaplegic homolog 6
Domain	148 – 275	MH1
Binding site	247 – 247
Binding site	260 – 260
Binding site	265 – 265
Alternative sequence	262 – 273	NPYHFSRLCGPE -> MSRMGKPIETQK. In isoform B.

Literature citations
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.
Yang Y.; Zheng Y.; Li W.; Li L.; Tu M.; Zhao L.; Mei H.; Zhu G.; Zhu Y.;
Genet. Med. 21:2577-2585(2019)
Cited for: INVOLVEMENT IN RUS; VARIANTS RUS 115-TRP--ARG-496 DEL; LEU-187; SER-205; ASN-267; 279-TYR--ARG-496 DEL; 315-GLU--ARG-496 DEL; PRO-339; 350-TYR--ARG-496 DEL; ARG-370; 447-GLN--ARG-496 DEL AND ASP-471; VARIANTS 75-ARG--ARG-496 DEL; 130-SER--ARG-496 DEL AND 300-TYR--ARG-496 DEL;

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.