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UniProtKB/Swiss-Prot O75800: Variant p.Tyr379Cys

Zinc finger MYND domain-containing protein 10
Gene: ZMYND10
Chromosomal location: 3p21.3
Variant information

Variant position:  379
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Tyrosine (Y) to Cysteine (C) at position 379 (Y379C, p.Tyr379Cys).
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 large size and aromatic (Y) to medium size and polar (C)
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

Involvement in disease:  Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:23891469, ECO:0000269|PubMed:23891471, ECO:0000269|PubMed:25186273, ECO:0000269|PubMed:29601588}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CILD22; no loss of interaction with LRRC6.
Any additional useful information about the variant.

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



Sequence information

Variant position:  379
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  440
The length of the canonical sequence.

Location on the sequence:   HVFSPSEQDLRLQARRWAET  Y RLDVLEAVAPERPRCAYCSA
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                         HVFSPSEQDLRLQARRWAETYRLDVLEAVAPE--------------------RPRCAYCSA

Mouse                         HVFSLSEKDLRQQAQRWAETYRLDVLEAVAPE---------

Rat                           HVFSLSEKDLRQQAQRWAETYRLDVLEAVAPE---------

Xenopus laevis                QAFSPSEEDLRSQAKRWAQTYNMDVMEALVPE---------

Zebrafish                     NVFNPSESELREQASRLAQTYNLDVMENLIPD---------

Drosophila                    VFLSKNKENICALATRLSKAYGTDLLCELEQNMDDLKMGEA

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 – 440 Zinc finger MYND domain-containing protein 10
Region 366 – 440 Interaction with LRRC6


Literature citations

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Zariwala M.A.; Gee H.Y.; Kurkowiak M.; Al-Mutairi D.A.; Leigh M.W.; Hurd T.W.; Hjeij R.; Dell S.D.; Chaki M.; Dougherty G.W.; Adan M.; Spear P.C.; Esteve-Rudd J.; Loges N.T.; Rosenfeld M.; Diaz K.A.; Olbrich H.; Wolf W.E.; Sheridan E.; Batten T.F.; Halbritter J.; Porath J.D.; Kohl S.; Lovric S.; Hwang D.Y.; Pittman J.E.; Burns K.A.; Ferkol T.W.; Sagel S.D.; Olivier K.N.; Morgan L.C.; Werner C.; Raidt J.; Pennekamp P.; Sun Z.; Zhou W.; Airik R.; Natarajan S.; Allen S.J.; Amirav I.; Wieczorek D.; Landwehr K.; Nielsen K.; Schwerk N.; Sertic J.; Kohler G.; Washburn J.; Levy S.; Fan S.; Koerner-Rettberg C.; Amselem S.; Williams D.S.; Mitchell B.J.; Drummond I.A.; Otto E.A.; Omran H.; Knowles M.R.; Hildebrandt F.;
Am. J. Hum. Genet. 93:336-345(2013)
Cited for: VARIANTS CILD22 GLY-16; PRO-29; 323-GLN--LYS-440 DEL; 366-GLN--LYS-440 DEL AND CYS-379; CHARACTERIZATION OF VARIANTS CILD22 GLY-16; PRO-29; 323-GLN--LYS-440 DEL; 366-GLN--LYS-440 DEL AND CYS-379; FUNCTION; INTERACTION WITH LRRC6; INVOLVEMENT IN CILD22;

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.