UniProtKB/Swiss-Prot P48029: Variant p.Lys4Arg

Sodium- and chloride-dependent creatine transporter 1
Gene: SLC6A8
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Variant information Variant position:

4 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 Lysine (K) to Arginine (R) at position 4 (K4R, p.Lys4Arg). 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 large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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:

No effect on creatine transporter activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1190261367 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MAK K SAENGIYSVSGDEKKGPLIA 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                         MAKKSAENGIYSVSGDEKKGPLIA

Mouse                         MAKKSAENGIYSVSGDEKKGPLIV

Rat                           MAKKSAENGIYSVSGDEKKGPLIV

Bovine                        MANKSTENGIYSVSGEEKKGPLIA

Rabbit                        MAKKSAENGIYSVSGDEKKGPLIA

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 – 635	Sodium- and chloride-dependent creatine transporter 1
Topological domain	1 – 60	Cytoplasmic
Region	1 – 28	Disordered
Alternative sequence	1 – 365	Missing. In isoform 3.
Alternative sequence	1 – 259	MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGK -> MLPTLQIQGPAAFAPGDRGPGRHCPFPVPITPTGALLPVSDSCDSLVDLVWPSVTYLALGTQSRVWPHPLGAPGQAGESPEQRRQCLELWDMASSLGDKVPRAACGKRGQTVWQLHLACLCLAQFHSPPAQPPPLSRRGGGPDPDPISRSLPGPPTPALPTHSYSSHSPRAPRLLSPLRRAPRGSPAPHRHASLQTNEAPRELPHCTWPGLPGRSLAPSFLWREPWLGGQWGPLNIPARKGDRRRWEWGCEGGGATASAEQPGPQ. In isoform 2.
Alternative sequence	1 – 115	Missing. In isoform 4.

Literature citations
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg E.H.; Martinez Munoz C.; Betsalel O.T.; van Dooren S.J.; Fernandez M.; Jakobs C.; deGrauw T.J.; Kleefstra T.; Schwartz C.E.; Salomons G.S.;
Hum. Mutat. 28:890-896(2007)
Cited for: VARIANTS CCDS1 ARG-87; PHE-107 DEL; ASN-336 DEL; TRP-337; ILE-347 DEL; LEU-390; TRP-391 AND LEU-554; VARIANTS ARG-4; ARG-26; VAL-560 AND ILE-629; CHARACTERIZATION OF VARIANTS CCDS1 ARG-87; PHE-107 DEL; ASN-336 DEL; TRP-337; ILE-347 DEL; LEU-390 AND TRP-391; CHARACTERIZATION OF VARIANTS ARG-4; ARG-26; VAL-560 AND ILE-629; FUNCTION; TRANSPORTER ACTIVITY;

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.