Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16997 | 51214;51215;51216 | chr2:178611140;178611139;178611138 | chr2:179475867;179475866;179475865 |
| N2AB | 15356 | 46291;46292;46293 | chr2:178611140;178611139;178611138 | chr2:179475867;179475866;179475865 |
| N2A | 14429 | 43510;43511;43512 | chr2:178611140;178611139;178611138 | chr2:179475867;179475866;179475865 |
| N2B | 7932 | 24019;24020;24021 | chr2:178611140;178611139;178611138 | chr2:179475867;179475866;179475865 |
| Novex-1 | 8057 | 24394;24395;24396 | chr2:178611140;178611139;178611138 | chr2:179475867;179475866;179475865 |
| Novex-2 | 8124 | 24595;24596;24597 | chr2:178611140;178611139;178611138 | chr2:179475867;179475866;179475865 |
| 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/V | rs757016012  |
-0.114 | 0.124 | N | 0.419 | 0.108 | 0.339316883193 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| A/V | rs757016012 |
-0.114 | 0.124 | N | 0.419 | 0.108 | 0.339316883193 | gnomAD-4.0.0 | 4.77973E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.586E-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 | 0.4431 | ambiguous | 0.451 | ambiguous | -0.738 | Destabilizing | 0.968 | D | 0.485 | neutral | None | None | None | None | N |
| A/D | 0.1513 | likely_benign | 0.1558 | benign | -0.528 | Destabilizing | 0.396 | N | 0.501 | neutral | None | None | None | None | N |
| A/E | 0.1517 | likely_benign | 0.1416 | benign | -0.677 | Destabilizing | 0.002 | N | 0.231 | neutral | N | 0.440669492 | None | None | N |
| A/F | 0.266 | likely_benign | 0.2948 | benign | -0.885 | Destabilizing | 0.567 | D | 0.604 | neutral | None | None | None | None | N |
| A/G | 0.1043 | likely_benign | 0.1041 | benign | -0.297 | Destabilizing | 0.22 | N | 0.405 | neutral | N | 0.499667311 | None | None | N |
| A/H | 0.3549 | ambiguous | 0.3811 | ambiguous | -0.336 | Destabilizing | 0.909 | D | 0.608 | neutral | None | None | None | None | N |
| A/I | 0.1595 | likely_benign | 0.1769 | benign | -0.332 | Destabilizing | 0.003 | N | 0.315 | neutral | None | None | None | None | N |
| A/K | 0.2916 | likely_benign | 0.3176 | benign | -0.648 | Destabilizing | 0.396 | N | 0.454 | neutral | None | None | None | None | N |
| A/L | 0.1299 | likely_benign | 0.1345 | benign | -0.332 | Destabilizing | 0.157 | N | 0.441 | neutral | None | None | None | None | N |
| A/M | 0.1705 | likely_benign | 0.1822 | benign | -0.461 | Destabilizing | 0.832 | D | 0.552 | neutral | None | None | None | None | N |
| A/N | 0.1525 | likely_benign | 0.1634 | benign | -0.302 | Destabilizing | 0.567 | D | 0.591 | neutral | None | None | None | None | N |
| A/P | 0.0874 | likely_benign | 0.0908 | benign | -0.274 | Destabilizing | 0.002 | N | 0.232 | neutral | N | 0.482123626 | None | None | N |
| A/Q | 0.2303 | likely_benign | 0.236 | benign | -0.568 | Destabilizing | 0.396 | N | 0.517 | neutral | None | None | None | None | N |
| A/R | 0.3171 | likely_benign | 0.339 | benign | -0.192 | Destabilizing | 0.567 | D | 0.519 | neutral | None | None | None | None | N |
| A/S | 0.084 | likely_benign | 0.0865 | benign | -0.478 | Destabilizing | 0.124 | N | 0.431 | neutral | N | 0.482064586 | None | None | N |
| A/T | 0.0751 | likely_benign | 0.0789 | benign | -0.549 | Destabilizing | 0.22 | N | 0.42 | neutral | N | 0.48164923 | None | None | N |
| A/V | 0.0944 | likely_benign | 0.0975 | benign | -0.274 | Destabilizing | 0.124 | N | 0.419 | neutral | N | 0.500331614 | None | None | N |
| A/W | 0.6034 | likely_pathogenic | 0.6381 | pathogenic | -1.031 | Destabilizing | 0.968 | D | 0.672 | neutral | None | None | None | None | N |
| A/Y | 0.3402 | ambiguous | 0.3879 | ambiguous | -0.687 | Destabilizing | 0.89 | D | 0.599 | 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.