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UniProtKB/Swiss-Prot P01266: Variant p.Gln135His

Thyroglobulin
Gene: TG
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Variant information Variant position: help 135
Type of variant: help LB/B
Residue change: help From Glutamine (Q) to Histidine (H) at position 135 (Q135H, p.Gln135His).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 135
Protein sequence length: help 2768
Location on the sequence: help SYLPQCQDSGDYAPVQCDVQ Q VQCWCVDAEGMEVYGTRQLG
Residue conservation: help 
Human                         SYLPQCQDSGDYAPVQCDVQQVQCWCVDAEGMEVYGTRQLG

Mouse                         LYLPQCQDSGNYAPVQCDLQRVQCWCVDTEGMEVYGTRQQG

Rat                           LYLPQCQDSGNYAPVQCDLQQVQCWCVDTEGMEVYGTRQQG

Pig                           SYLPQCQDSGAYAPVQCDVRREQCWCVDAEGMEVYGTRRLG

Bovine                        SYLPQCQDSGDYSPVQCDLRRRQCWCVDAEGMEVYGTRQQG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 2768 Thyroglobulin
Domain 93 – 160 Thyroglobulin type-1 2
Modified residue 149 – 149 Diiodotyrosine; alternate
Modified residue 149 – 149 Iodotyrosine; alternate
Disulfide bond 131 – 138
Mutagenesis 149 – 149 Y -> F. Severe loss of thyroxine (T4) production; when associated with F-108, F-2540 and F-2766. Abolishes thyroxine (T4) production; when associated with F-108, F-234, F-2540 and F-2766.



Literature citations
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
Hishinuma A.; Takamatsu J.; Ohyama Y.; Yokozawa T.; Kanno Y.; Kuma K.; Yoshida S.; Matsuura N.; Ieiri T.;
J. Clin. Endocrinol. Metab. 84:1438-1444(1999)
Cited for: VARIANTS AITD3 ALA-734 AND VAL-1028; VARIANTS TDH3 ARG-1264; SER-1996 AND TRP-1999; VARIANTS HIS-135; ASP-604; ASP-653; GLU-830; GLN-985 DEL; TYR-1043; THR-1059; ARG-1437; HIS-1463; ASN-1838; THR-1936; GLU-2091; LEU-2149; ARG-2170; HIS-2242; ARG-2501 AND GLN-2530;
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.