UniProtKB/Swiss-Prot Q9UJY4: Variant p.Ala424Pro

ADP-ribosylation factor-binding protein GGA2
Gene: GGA2
Feedback?

Variant information Variant position:

424 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 Alanine (A) to Proline (P) at position 424 (A424P, p.Ala424Pro). 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 hydrophobic (A) to medium size and hydrophobic (P) 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 rs1135045 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LPGGGVQNPSADRNLLDLLS A QPAPCPLNYVSQKSVPKEVP 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                         LPGGGVQNPSADRNLLDLLSAQPAPCPLNYVSQKSVPKEVP

Mouse                         LMGGGIQSLSADRNLLDLFSPQPSPG-LNYVPQKSIPKEVP

Baker's yeast                 AAETSVNDLLGD--LTDLSISNPSTA---------NQASFG

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 – 613	ADP-ribosylation factor-binding protein GGA2
Region	316 – 483	Unstructured hinge

Literature citations
A family of ADP-ribosylation factor effectors that can alter transport through the trans-Golgi.
Boman A.L.; Zhang C.-J.; Zhu X.; Kahn R.A.;
Mol. Biol. Cell 11:1241-1255(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PRO-424; SUBCELLULAR LOCATION; A family of proteins with gamma-adaptin and VHS domains that facilitate trafficking between the trans-Golgi network and the vacuole/lysosome.
Hirst J.; Lui W.W.Y.; Bright N.A.; Totty N.; Seaman M.N.J.; Robinson M.S.;
J. Cell Biol. 149:67-80(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PRO-424; FUNCTION; DOMAIN; 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]; VARIANT PRO-424; The sortilin cytoplasmic tail conveys Golgi-endosome transport and binds the VHS domain of the GGA2 sorting protein.
Nielsen M.S.; Madsen P.; Christensen E.I.; Nykjaer A.; Gliemann J.; Kasper D.; Pohlmann R.; Petersen C.M.;
EMBO J. 20:2180-2190(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-455; VARIANT PRO-424; INTERACTION WITH SORT1;

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.