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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14980: Variant p.Tyr1836His

Nuclear mitotic apparatus protein 1
Gene: NUMA1
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Variant information Variant position: help 1836 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Tyrosine (Y) to Histidine (H) at position 1836 (Y1836H, p.Tyr1836His). 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 large size and aromatic (Y) to medium size and polar (H) 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1836 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2115 The length of the canonical sequence.
Location on the sequence: help NITMTKKLDVEEPDSANSSF Y STRSAPASQASLRATSSTQS 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                         NITMTKKLDVEEPDSANSSFYSTRSAPASQASLRATSSTQS

Mouse                         NITMTKKLELEEPDSANSSFYSTQSAPASQANLRATSSTQS

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 – 2115 Nuclear mitotic apparatus protein 1
Region 1699 – 1876 Membrane-binding domain 1
Region 1700 – 2115 Tail (Globular)
Region 1826 – 1901 Disordered
Compositional bias 1830 – 1862 Polar residues
Modified residue 1830 – 1830 Phosphoserine
Modified residue 1833 – 1833 Phosphoserine
Modified residue 1834 – 1834 Phosphoserine; by PLK1
Modified residue 1836 – 1836 Phosphotyrosine
Modified residue 1840 – 1840 Phosphoserine
Modified residue 1844 – 1844 Phosphoserine; alternate
Glycosylation 1844 – 1844 O-linked (GlcNAc) serine; alternate
Cross 1822 – 1822 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Alternative sequence 1725 – 2115 LDLSCEEGTPLSITSKLPRTQPDGTSVPGEPASPISQRLPPKVESLESLYFTPIPARSQAPLESSLDSLGDVFLDSGRKTRSARRRTTQIINITMTKKLDVEEPDSANSSFYSTRSAPASQASLRATSSTQSLARLGSPDYGNSALLSLPGYRPTTRSSARRSQAGVSSGAPPGRNSFYMGTCQDEPEQLDDWNRIAELQQRNRVCPPHLKTCYPLESRPSLSLGTITDEEMKTGDPQETLRRASMQPIQIAEGTGITTRQQRKRVSLEPHQGPGTPESKKATSCFPRPMTPRDRHEGRKQSTTEAQKKAAPASTKQADRRQSMAFSILNTPKKLGNSLLRRGASKKALSKASPNTRSGTRRSPRIATTTASAATAAAIGATPRAKGKAKH -> SQANSSQTPRDSDACPHPGLVPGPSLAPSRSWPRGPGAWTVWALSLPCLLFS. In isoform 3.
Alternative sequence 1739 – 2115 SKLPRTQPDGTSVPGEPASPISQRLPPKVESLESLYFTPIPARSQAPLESSLDSLGDVFLDSGRKTRSARRRTTQIINITMTKKLDVEEPDSANSSFYSTRSAPASQASLRATSSTQSLARLGSPDYGNSALLSLPGYRPTTRSSARRSQAGVSSGAPPGRNSFYMGTCQDEPEQLDDWNRIAELQQRNRVCPPHLKTCYPLESRPSLSLGTITDEEMKTGDPQETLRRASMQPIQIAEGTGITTRQQRKRVSLEPHQGPGTPESKKATSCFPRPMTPRDRHEGRKQSTTEAQKKAAPASTKQADRRQSMAFSILNTPKKLGNSLLRRGASKKALSKASPNTRSGTRRSPRIATTTASAATAAAIGATPRAKGKAKH -> RSGGSLPPYVCLWSACCLSGCILVR. In isoform 4.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.