UniProtKB/Swiss-Prot P16278: Variant p.Pro10Leu

Beta-galactosidase
Gene: GLB1
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Variant information Variant position:

10 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 10 (P10L, p.Pro10Leu). 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 rs7637099 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MPGFLVRIL P LLLVLLLLGPTRGLRNATQR 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                         MPGFLVRILPLLLVLLLLGPTRGLRNATQR

                              RPA-AVRVLWALLLPLLLGSARGLRNASQR

Mouse                         RVP-LCTPLPLLALLQLLGAAHGIYNVTQR

Bovine                        MPG-VVRLLALLLVPLLLGSARGLHNATQR

Cat                           FPG-AARLLSLLLVPLLLGPARGLRNASQR

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
Signal peptide	1 – 23
Glycosylation	26 – 26	N-linked (GlcNAc...) asparagine
Alternative sequence	1 – 30	Missing. In isoform 3.

Literature citations
Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.
Morreau H.; Galjart N.J.; Gillemans N.; Willemsen R.; van der Horst G.T.J.; D'Azzo A.;
J. Biol. Chem. 264:20655-20663(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); PROTEIN SEQUENCE OF 29-46; 287-299; 372-376 AND 443-457; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT LEU-10; Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA.
Yamamoto Y.; Hake C.A.; Martin B.M.; Kretz K.A.; Ahern-Rindell A.J.; Naylor S.L.; Mudd M.; O'Brien J.S.;
DNA Cell Biol. 9:119-127(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; VARIANT LEU-10; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3); VARIANT LEU-10; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT LEU-10; 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 LEU-10; Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
Silva C.M.D.; Severini M.H.; Sopelsa A.; Coelho J.C.; Zaha A.; d'Azzo A.; Giugliani R.;
Hum. Mutat. 13:401-409(1999)
Cited for: VARIANTS GM1G1 HIS-59; SER-121; CYS-208; MET-240 AND ASN-491; VARIANTS LEU-10; CYS-521 AND GLY-532; Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
Paschke E.; Milos I.; Kreimer-Erlacher H.; Hoefler G.; Beck M.; Hoeltzenbein M.; Kleijer W.; Levade T.; Michelakakis H.; Radeva B.;
Hum. Genet. 109:159-166(2001)
Cited for: VARIANTS MPS4B LEU-273; PRO-408 AND ALA-500; VARIANTS GM1G3 MET-82; ASP-270 AND TYR-281; VARIANT LEU-10; Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
Gururaj A.; Sztriha L.; Hertecant J.; Johansen J.G.; Georgiou T.; Campos Y.; Drousiotou A.; d'Azzo A.;
J. Child Neurol. 20:57-60(2005)
Cited for: VARIANT GM1G1 TYR-151; VARIANT LEU-10;

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