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UniProtKB/Swiss-Prot Q9Y6D9: Variant p.Ser29Leu

Mitotic spindle assembly checkpoint protein MAD1
Gene: MAD1L1
Variant information

Variant position:  29
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Serine (S) to Leucine (L) at position 29 (S29L, p.Ser29Leu).
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 polar (S) to medium size and hydrophobic (L)
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:  In a lymphoid cancer cell line; somatic mutation.
Any additional useful information about the variant.



Sequence information

Variant position:  29
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  718
The length of the canonical sequence.

Location on the sequence:   MVLSTLRSLNNFISQRVEGG  S GLDISTSAPGSLQMQYQQSM
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                         MVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSM

Mouse                         TVLSSLRSLNNFISQRMEGTSGLDVSTSASGSLQKQYEYHM

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.

TypePositionsDescription
Chain 1 – 718 Mitotic spindle assembly checkpoint protein MAD1
Modified residue 16 – 16 Phosphoserine
Alternative sequence 1 – 65 MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLI -> MLPARGCVRKRTVWPRLARVLIVTLLTLELSYAPLPCQLSGVPYNTGDPVGRWARPCIWPCPWHT. In isoform 2.
Mutagenesis 1 – 485 Missing. Defective dimerization. Abolishes binding to the closed and open conformations of MAD2L1. Impairs mitotic checkpoint signaling abolishing mitotic arrest, and shortens the duration of mitosis.


Literature citations

Mutations in the mitotic check point gene, MAD1L1, in human cancers.
Tsukasaki K.; Miller C.W.; Greenspun E.; Eshaghian S.; Kawabata H.; Fujimoto T.; Tomonaga M.; Sawyers C.; Said J.W.; Koeffler H.P.;
Oncogene 20:3301-3305(2001)
Cited for: VARIANTS CANCER LEU-29; CYS-59; GLN-360; LYS-516; CYS-556 AND LYS-569; VARIANTS MET-500 AND HIS-558;

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.