UniProtKB/Swiss-Prot P48357: Variant p.Ser675Thr

Leptin receptor
Gene: LEPR
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Variant information Variant position:

675 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 Serine (S) to Threonine (T) at position 675 (S675T, p.Ser675Thr). 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 (T) 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 rs373154589 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1165 The length of the canonical sequence.
Location on the sequence:

KKEKNVTLLWKPLMKNDSLC S VQRYVINHHTSCNGTWSEDV 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                         KKEKNVTLLWKPLMKNDSLCSVQRYVINHHTSCNGTWSEDV

Rhesus macaque                KKEKNVTLLWKPLMKNESLCSVQRYVINHHTSCNGTWSEDV

Mouse                         KKERNVTLLWKPLTKNDSLCSVRRYVVKHRTAHNGTWSEDV

Rat                           KKERNVTLLWKPLMKNDSLCSVRRYVVKHRTAHNGTWSQDV

Pig                           KKERNITLLWKPLMKNDSLCSVRSYVVKHHTSRHGTWSEDV

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	22 – 1165	Leptin receptor
Topological domain	22 – 839	Extracellular
Domain	639 – 732	Fibronectin type-III 3
Glycosylation	659 – 659	N-linked (GlcNAc...) asparagine
Glycosylation	688 – 688	N-linked (GlcNAc...) asparagine

Literature citations
Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents.
Roth H.; Korn T.; Rosenkranz K.; Hinney A.; Ziegler A.; Kunz J.; Siegfried W.; Mayer H.; Hebebrand J.; Grzeschik K.-H.;
Hum. Genet. 103:540-546(1998)
Cited for: VARIANTS ARG-109; ARG-223; ASN-656 AND THR-675;

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.