Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6880 | 20863;20864;20865 | chr2:178725566;178725565;178725564 | chr2:179590293;179590292;179590291 |
| N2AB | 6563 | 19912;19913;19914 | chr2:178725566;178725565;178725564 | chr2:179590293;179590292;179590291 |
| N2A | 5636 | 17131;17132;17133 | chr2:178725566;178725565;178725564 | chr2:179590293;179590292;179590291 |
| 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/S | None | None | None | N | 0.151 | 0.12 | 0.101711395817 | gnomAD-4.0.0 | 6.84628E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99836E-07 | 0 | 0 |
| A/T | rs753356990  |
-0.386 | 0.001 | N | 0.164 | 0.089 | 0.149567049428 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 4.01E-05 | 1.57E-05 | 1.41363E-04 |
| A/T | rs753356990 |
-0.386 | 0.001 | N | 0.164 | 0.089 | 0.149567049428 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 2.94E-05 | 0 | 0 |
| A/T | rs753356990 |
-0.386 | 0.001 | N | 0.164 | 0.089 | 0.149567049428 | gnomAD-4.0.0 | 1.24013E-05 | None | None | None | None | I | None | 1.33601E-05 | 0 | None | 0 | 2.22975E-05 | None | 3.12617E-05 | 4.94723E-04 | 8.47959E-06 | 2.20022E-05 | 1.60226E-05 |
| A/V | rs763878064 |
-0.127 | None | N | 0.176 | 0.134 | 0.383256108077 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| A/V | rs763878064 |
-0.127 | None | N | 0.176 | 0.134 | 0.383256108077 | gnomAD-4.0.0 | 6.16116E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09816E-06 | 0 | 0 |
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 | 0.3557 | ambiguous | 0.3158 | benign | -0.758 | Destabilizing | 0.356 | N | 0.472 | neutral | None | None | None | None | I |
| A/D | 0.1478 | likely_benign | 0.1351 | benign | -0.84 | Destabilizing | 0.055 | N | 0.597 | neutral | N | 0.474760602 | None | None | I |
| A/E | 0.145 | likely_benign | 0.1373 | benign | -0.989 | Destabilizing | 0.072 | N | 0.496 | neutral | None | None | None | None | I |
| A/F | 0.1487 | likely_benign | 0.1368 | benign | -0.978 | Destabilizing | 0.214 | N | 0.652 | neutral | None | None | None | None | I |
| A/G | 0.107 | likely_benign | 0.0997 | benign | -0.501 | Destabilizing | 0.012 | N | 0.38 | neutral | N | 0.486479705 | None | None | I |
| A/H | 0.2587 | likely_benign | 0.2351 | benign | -0.565 | Destabilizing | 0.356 | N | 0.627 | neutral | None | None | None | None | I |
| A/I | 0.1185 | likely_benign | 0.1096 | benign | -0.425 | Destabilizing | 0.013 | N | 0.505 | neutral | None | None | None | None | I |
| A/K | 0.2329 | likely_benign | 0.217 | benign | -0.922 | Destabilizing | 0.038 | N | 0.517 | neutral | None | None | None | None | I |
| A/L | 0.1026 | likely_benign | 0.0946 | benign | -0.425 | Destabilizing | 0.016 | N | 0.486 | neutral | None | None | None | None | I |
| A/M | 0.1347 | likely_benign | 0.1205 | benign | -0.436 | Destabilizing | 0.214 | N | 0.528 | neutral | None | None | None | None | I |
| A/N | 0.1222 | likely_benign | 0.1089 | benign | -0.523 | Destabilizing | 0.038 | N | 0.634 | neutral | None | None | None | None | I |
| A/P | 0.115 | likely_benign | 0.1028 | benign | -0.392 | Destabilizing | None | N | 0.259 | neutral | N | 0.487903258 | None | None | I |
| A/Q | 0.1852 | likely_benign | 0.1739 | benign | -0.827 | Destabilizing | 0.214 | N | 0.526 | neutral | None | None | None | None | I |
| A/R | 0.2053 | likely_benign | 0.1964 | benign | -0.389 | Destabilizing | 0.214 | N | 0.512 | neutral | None | None | None | None | I |
| A/S | 0.0651 | likely_benign | 0.0615 | benign | -0.682 | Destabilizing | None | N | 0.151 | neutral | N | 0.422235626 | None | None | I |
| A/T | 0.0634 | likely_benign | 0.0615 | benign | -0.76 | Destabilizing | 0.001 | N | 0.164 | neutral | N | 0.462735454 | None | None | I |
| A/V | 0.0793 | likely_benign | 0.0772 | benign | -0.392 | Destabilizing | None | N | 0.176 | neutral | N | 0.471528296 | None | None | I |
| A/W | 0.4678 | ambiguous | 0.4389 | ambiguous | -1.133 | Destabilizing | 0.864 | D | 0.669 | neutral | None | None | None | None | I |
| A/Y | 0.2473 | likely_benign | 0.2206 | benign | -0.804 | Destabilizing | 0.356 | N | 0.648 | neutral | None | None | None | None | I |
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.