UniProtKB/Swiss-Prot P35346: Variant p.Pro335Leu

Somatostatin receptor type 5
Gene: SSTR5
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Variant information Variant position:

335 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 Proline (P) to Leucine (L) at position 335 (P335L, p.Pro335Leu). 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 rs169068 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FQKVLCLRKGSGAKDADATE P RPDRIRQQQEATPPAHRAAA 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                         FQKVLCLRKGS--GAKDADATEPRPDRIRQQQEATPPAHRAAA

Mouse                         FRKALCLRRGY--GVEDADAIEPRPDKSGRPQ-TTLPTRSC

Rat                           FRKVLCLRRGY--GMEDADAIEPRPDKSGRPQ-ATLPTRSC

Bovine                        FRKVLCLRKGYGAGAEDADATEPQPGPSSRLQEAMMPVRSC

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 – 364	Somatostatin receptor type 5
Topological domain	309 – 364	Cytoplasmic
Region	327 – 364	Disordered
Compositional bias	327 – 341	Basic and acidic residues
Modified residue	325 – 325	Phosphoserine; by PKA
Lipidation	320 – 320	S-palmitoyl cysteine; by ZDHHC5

Literature citations
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
Daniels R.J.; Peden J.F.; Lloyd C.; Horsley S.W.; Clark K.; Tufarelli C.; Kearney L.; Buckle V.J.; Doggett N.A.; Flint J.; Higgs D.R.;
Hum. Mol. Genet. 10:339-352(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT LEU-335; The sequence and analysis of duplication-rich human chromosome 16.
Martin J.; Han C.; Gordon L.A.; Terry A.; Prabhakar S.; She X.; Xie G.; Hellsten U.; Chan Y.M.; Altherr M.; Couronne O.; Aerts A.; Bajorek E.; Black S.; Blumer H.; Branscomb E.; Brown N.C.; Bruno W.J.; Buckingham J.M.; Callen D.F.; Campbell C.S.; Campbell M.L.; Campbell E.W.; Caoile C.; Challacombe J.F.; Chasteen L.A.; Chertkov O.; Chi H.C.; Christensen M.; Clark L.M.; Cohn J.D.; Denys M.; Detter J.C.; Dickson M.; Dimitrijevic-Bussod M.; Escobar J.; Fawcett J.J.; Flowers D.; Fotopulos D.; Glavina T.; Gomez M.; Gonzales E.; Goodstein D.; Goodwin L.A.; Grady D.L.; Grigoriev I.; Groza M.; Hammon N.; Hawkins T.; Haydu L.; Hildebrand C.E.; Huang W.; Israni S.; Jett J.; Jewett P.B.; Kadner K.; Kimball H.; Kobayashi A.; Krawczyk M.-C.; Leyba T.; Longmire J.L.; Lopez F.; Lou Y.; Lowry S.; Ludeman T.; Manohar C.F.; Mark G.A.; McMurray K.L.; Meincke L.J.; Morgan J.; Moyzis R.K.; Mundt M.O.; Munk A.C.; Nandkeshwar R.D.; Pitluck S.; Pollard M.; Predki P.; Parson-Quintana B.; Ramirez L.; Rash S.; Retterer J.; Ricke D.O.; Robinson D.L.; Rodriguez A.; Salamov A.; Saunders E.H.; Scott D.; Shough T.; Stallings R.L.; Stalvey M.; Sutherland R.D.; Tapia R.; Tesmer J.G.; Thayer N.; Thompson L.S.; Tice H.; Torney D.C.; Tran-Gyamfi M.; Tsai M.; Ulanovsky L.E.; Ustaszewska A.; Vo N.; White P.S.; Williams A.L.; Wills P.L.; Wu J.-R.; Wu K.; Yang J.; DeJong P.; Bruce D.; Doggett N.A.; Deaven L.; Schmutz J.; Grimwood J.; Richardson P.; Rokhsar D.S.; Eichler E.E.; Gilna P.; Lucas S.M.; Myers R.M.; Rubin E.M.; Pennacchio L.A.;
Nature 432:988-994(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT LEU-335;

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.