Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 740 | 2443;2444;2445 | chr2:178786000;178785999;178785998 | chr2:179650727;179650726;179650725 |
| N2AB | 740 | 2443;2444;2445 | chr2:178786000;178785999;178785998 | chr2:179650727;179650726;179650725 |
| N2A | 740 | 2443;2444;2445 | chr2:178786000;178785999;178785998 | chr2:179650727;179650726;179650725 |
| N2B | 694 | 2305;2306;2307 | chr2:178786000;178785999;178785998 | chr2:179650727;179650726;179650725 |
| Novex-1 | 694 | 2305;2306;2307 | chr2:178786000;178785999;178785998 | chr2:179650727;179650726;179650725 |
| Novex-2 | 694 | 2305;2306;2307 | chr2:178786000;178785999;178785998 | chr2:179650727;179650726;179650725 |
| Novex-3 | 740 | 2443;2444;2445 | chr2:178786000;178785999;178785998 | chr2:179650727;179650726;179650725 |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: CGC
- RefSeq wild type template codon: GCG
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | None | None | None | N | None | 0.251 | None | gnomAD-4.0.0 | 2.05222E-06 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.993E-07 | 2.31863E-05 | 0 | |
| R/H | rs28933405  |
None | None | N | None | 0.109 | None | gnomAD-2.1.1 | 2.12E-05 | None | None | None | None | None | 8.01E-05 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 1.55E-05 | 0 | |
| R/H | rs28933405 |
None | None | N | None | 0.109 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 | |
| R/H | rs28933405 |
None | None | N | None | 0.109 | None | gnomAD-4.0.0 | 1.36312E-05 | None | None | None | None | None | 5.34174E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10169E-05 | 5.48896E-05 | 0 | |
| R/L | rs28933405 |
None | None | N | None | 0.319 | None |
Satoh (1999)
| None |
HCM 
|
het | None | None | Increases binding of TTN to ACTN1 (Y2H assay) | None | None | None | None | None | None | None | None | None | None | None | |
| R/L | rs28933405 |
None | None | N | None | 0.319 | None | gnomAD-4.0.0 | 6.84078E-07 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99298E-07 | 0 | 0 | |
| R/S | rs566299753 |
None | None | N | None | 0.259 | None | gnomAD-2.1.1 | 1.15542E-04 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 9.47341E-04 | None | 0 | 0 | 0 | |
| R/S | rs566299753 |
None | None | N | None | 0.259 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 8.28844E-04 | 0 | |
| R/S | rs566299753 |
None | None | N | None | 0.259 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None | |
| R/S | rs566299753 |
None | None | N | None | 0.259 | None | gnomAD-4.0.0 | 6.19538E-05 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64962E-04 | 8.47462E-07 | 1.04304E-03 | 4.79939E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2219 | likely_benign | 0.1752 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/C | 0.1145 | likely_benign | 0.1056 | benign | None | None | None | None | None | None | N | 0.43907956 | None | None | |
| R/D | 0.2305 | likely_benign | 0.1848 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/E | 0.1959 | likely_benign | 0.1601 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/F | 0.3279 | likely_benign | 0.2638 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/G | 0.1307 | likely_benign | 0.1089 | benign | None | None | None | None | None | None | N | 0.438424133 | None | None | |
| R/H | 0.0612 | likely_benign | 0.0571 | benign | None | None | None | None | None | None | N | 0.380186337 | None | None | |
| R/I | 0.1887 | likely_benign | 0.1768 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/K | 0.1294 | likely_benign | 0.1097 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/L | 0.141 | likely_benign | 0.1203 | benign | None | None | None | None | None | None | N | 0.437899355 | None | None | |
| R/M | 0.2637 | likely_benign | 0.2283 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/N | 0.2031 | likely_benign | 0.1545 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/P | 0.2104 | likely_benign | 0.1543 | benign | None | None | None | None | None | None | N | 0.438533559 | None | None | |
| R/Q | 0.0893 | likely_benign | 0.0749 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/S | 0.231 | likely_benign | 0.1759 | benign | None | None | None | None | None | None | N | 0.437349276 | None | None | |
| R/T | 0.1595 | likely_benign | 0.1378 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/V | 0.2247 | likely_benign | 0.1849 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/W | 0.1587 | likely_benign | 0.141 | benign | None | None | None | None | None | None | None | None | None | None | |
| R/Y | 0.1787 | likely_benign | 0.1435 | benign | None | None | None | None | None | None | None | None | None | None |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.