Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6915 | 20968;20969;20970 | chr2:178725461;178725460;178725459 | chr2:179590188;179590187;179590186 |
| N2AB | 6598 | 20017;20018;20019 | chr2:178725461;178725460;178725459 | chr2:179590188;179590187;179590186 |
| N2A | 5671 | 17236;17237;17238 | chr2:178725461;178725460;178725459 | chr2:179590188;179590187;179590186 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | None | None | 0.012 | N | 0.393 | 0.177 | 0.467585353272 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/S | rs201728165  |
-0.754 | None | N | 0.145 | 0.073 | None | gnomAD-2.1.1 | 1.14515E-04 | None | None | None | None | N | None | 1.32461E-03 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs201728165 |
-0.754 | None | N | 0.145 | 0.073 | None | gnomAD-3.1.2 | 3.74596E-04 | None | None | None | None | N | None | 1.35044E-03 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs201728165 |
-0.754 | None | N | 0.145 | 0.073 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 2.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/S | rs201728165 |
-0.754 | None | N | 0.145 | 0.073 | None | gnomAD-4.0.0 | 6.19987E-05 | None | None | None | None | N | None | 1.21337E-03 | 3.33778E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.12126E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3669 | ambiguous | 0.3672 | ambiguous | -0.741 | Destabilizing | 0.356 | N | 0.415 | neutral | None | None | None | None | N |
| A/D | 0.1544 | likely_benign | 0.1441 | benign | -0.888 | Destabilizing | 0.038 | N | 0.442 | neutral | None | None | None | None | N |
| A/E | 0.1414 | likely_benign | 0.1353 | benign | -1.03 | Destabilizing | 0.012 | N | 0.393 | neutral | N | 0.500907053 | None | None | N |
| A/F | 0.1796 | likely_benign | 0.1834 | benign | -1.061 | Destabilizing | None | N | 0.201 | neutral | None | None | None | None | N |
| A/G | 0.0986 | likely_benign | 0.0954 | benign | -0.678 | Destabilizing | 0.012 | N | 0.28 | neutral | N | 0.476243469 | None | None | N |
| A/H | 0.2749 | likely_benign | 0.2726 | benign | -0.722 | Destabilizing | 0.001 | N | 0.308 | neutral | None | None | None | None | N |
| A/I | 0.1382 | likely_benign | 0.1342 | benign | -0.471 | Destabilizing | 0.038 | N | 0.414 | neutral | None | None | None | None | N |
| A/K | 0.2422 | likely_benign | 0.2444 | benign | -0.921 | Destabilizing | 0.016 | N | 0.386 | neutral | None | None | None | None | N |
| A/L | 0.0984 | likely_benign | 0.0973 | benign | -0.471 | Destabilizing | 0.016 | N | 0.397 | neutral | None | None | None | None | N |
| A/M | 0.1534 | likely_benign | 0.1491 | benign | -0.316 | Destabilizing | 0.356 | N | 0.441 | neutral | None | None | None | None | N |
| A/N | 0.1534 | likely_benign | 0.1531 | benign | -0.527 | Destabilizing | 0.038 | N | 0.452 | neutral | None | None | None | None | N |
| A/P | 0.1528 | likely_benign | 0.1545 | benign | -0.468 | Destabilizing | None | N | 0.201 | neutral | N | 0.475896753 | None | None | N |
| A/Q | 0.1885 | likely_benign | 0.1831 | benign | -0.852 | Destabilizing | 0.072 | N | 0.447 | neutral | None | None | None | None | N |
| A/R | 0.1855 | likely_benign | 0.1977 | benign | -0.383 | Destabilizing | None | N | 0.261 | neutral | None | None | None | None | N |
| A/S | 0.0743 | likely_benign | 0.0731 | benign | -0.746 | Destabilizing | None | N | 0.145 | neutral | N | 0.424523783 | None | None | N |
| A/T | 0.0708 | likely_benign | 0.0709 | benign | -0.815 | Destabilizing | None | N | 0.139 | neutral | N | 0.464428965 | None | None | N |
| A/V | 0.0931 | likely_benign | 0.09 | benign | -0.468 | Destabilizing | None | N | 0.152 | neutral | N | 0.502640637 | None | None | N |
| A/W | 0.4368 | ambiguous | 0.4456 | ambiguous | -1.216 | Destabilizing | 0.864 | D | 0.481 | neutral | None | None | None | None | N |
| A/Y | 0.2642 | likely_benign | 0.2627 | benign | -0.88 | Destabilizing | 0.038 | N | 0.472 | neutral | None | None | None | None | N |
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.