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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NHS3: Variant p.Ala157Pro

Major facilitator superfamily domain-containing protein 8
Gene: MFSD8
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Variant information Variant position: help 157 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 Alanine (A) to Proline (P) at position 157 (A157P, p.Ala157Pro). 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 hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In CLN7; due to a deletion-insertion mutation at nucleotide level; endolysosomal localization; decreased chloride channel activity. Any additional useful information about the variant.


Sequence information Variant position: help 157 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 518 The length of the canonical sequence.
Location on the sequence: help VARGLLGIGAGNVAVVRSYT A GATSLQERTSSMANISMCQA 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                         VARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQA

Mouse                         IARGLVGFGAGNVAVVRSYIAGATSLQERTNAMANTSTCQA

Xenopus laevis                LARTFVGFGSGNVAVVRSYVAGATSLSERTGAMANISAFQA

Zebrafish                     LARTFVGIGAGNVAVVRSYVAGATSLKERTSAMANMSACQA

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 1 – 518 Major facilitator superfamily domain-containing protein 8
Topological domain 153 – 173 Cytoplasmic
Alternative sequence 147 – 184 Missing. In isoform 2.
Mutagenesis 153 – 153 R -> A. Decreased chloride channel activity.



Literature citations
CLN7 is an organellar chloride channel regulating lysosomal function.
Wang Y.; Zeng W.; Lin B.; Yao Y.; Li C.; Hu W.; Wu H.; Huang J.; Zhang M.; Xue T.; Ren D.; Qu L.; Cang C.;
Sci. Adv. 7:eabj9608-eabj9608(2021)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; ACTIVITY REGULATION; SUBCELLULAR LOCATION; TOPOLOGY; DILEUCINE MOTIF; MUTAGENESIS OF LEU-13; LEU-14; ARG-153; GLU-287 AND TYR-438; CHARACTERIZATION OF VARIANTS CLN7 PRO-157; LYS-294; GLN-336; GLN-465 AND TRP-465; Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M.; Siintola E.; Dvorakova L.; Vlaskova H.; Turnbull J.; Topcu M.; Yuksel D.; Gokben S.; Minassian B.A.; Elleder M.; Mole S.E.; Lehesjoki A.-E.;
Brain 132:810-819(2009)
Cited for: VARIANTS CLN7 HIS-139; PRO-157; LYS-294; ASP-310 AND TRP-465; Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M.; Lehesjoki A.E.; Mole S.E.;
Hum. Mutat. 33:42-63(2012)
Cited for: VARIANTS CLN7 PRO-157; ASN-160; ILE-160; LYS-458; GLN-465 AND VAL-470;
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.