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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15049: Variant p.Ser280Leu

Membrane protein MLC1
Gene: MLC1
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Variant information Variant position: help 280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Serine (S) to Leucine (L) at position 280 (S280L, p.Ser280Leu). 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: help Change from small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects the interaction with ATP1B1, TRPV4, AQP4 and HEPACAM. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 377 The length of the canonical sequence.
Location on the sequence: help VLIAISSLTSPLLFTASGYL S FSIMRIVEMFKDYPPAIKPS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPS

Mouse                         VLIAISSLTSPLLFTASGYLSFSVMRVVEIFKDYPPAIK-S

Drosophila                    -----------------AELQHALLALGESLDD--------

Baker's yeast                 -----------------GDLRYMLTGLGEKLTDA-------
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 377 Membrane protein MLC1



Literature citations
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
Lanciotti A.; Brignone M.S.; Molinari P.; Visentin S.; De Nuccio C.; Macchia G.; Aiello C.; Bertini E.; Aloisi F.; Petrucci T.C.; Ambrosini E.;
Hum. Mol. Genet. 21:2166-2180(2012)
Cited for: FUNCTION; SUBCELLULAR LOCATION; SUBUNIT; INTERACTION WITH ATP1B1; CHARACTERIZATION OF VARIANTS MLC1 ARG-125; ARG-246 AND LEU-280; Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater P.A.J.; Yuan B.Q.; van der Steen J.; Mulders J.; Koenst A.A.M.; Ilja Boor P.K.; Mejaski-Bosnjak V.; van der Maarel S.M.; Frants R.R.; Oudejans C.B.M.; Schutgens R.B.H.; Pronk J.C.; van der Knapp M.S.;
Am. J. Hum. Genet. 68:831-838(2001)
Cited for: VARIANTS MLC1 LEU-93; ARG-118; ARG-212 AND LEU-280;
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.