Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32194 | 96805;96806;96807 | chr2:178543393;178543392;178543391 | chr2:179408120;179408119;179408118 |
| N2AB | 30553 | 91882;91883;91884 | chr2:178543393;178543392;178543391 | chr2:179408120;179408119;179408118 |
| N2A | 29626 | 89101;89102;89103 | chr2:178543393;178543392;178543391 | chr2:179408120;179408119;179408118 |
| N2B | 23129 | 69610;69611;69612 | chr2:178543393;178543392;178543391 | chr2:179408120;179408119;179408118 |
| Novex-1 | 23254 | 69985;69986;69987 | chr2:178543393;178543392;178543391 | chr2:179408120;179408119;179408118 |
| Novex-2 | 23321 | 70186;70187;70188 | chr2:178543393;178543392;178543391 | chr2:179408120;179408119;179408118 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/T | rs781737970  |
-0.003 | 0.024 | N | 0.231 | 0.041 | 0.216624796971 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/T | rs781737970 |
-0.003 | 0.024 | N | 0.231 | 0.041 | 0.216624796971 | gnomAD-4.0.0 | 3.18233E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71608E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0595 | likely_benign | 0.0593 | benign | -0.163 | Destabilizing | 0.002 | N | 0.091 | neutral | N | 0.469068702 | None | None | I |
| S/C | 0.1288 | likely_benign | 0.1164 | benign | -0.374 | Destabilizing | 0.993 | D | 0.455 | neutral | N | 0.472125572 | None | None | I |
| S/D | 0.2958 | likely_benign | 0.2817 | benign | -0.096 | Destabilizing | 0.834 | D | 0.479 | neutral | None | None | None | None | I |
| S/E | 0.3272 | likely_benign | 0.3223 | benign | -0.207 | Destabilizing | 0.712 | D | 0.457 | neutral | None | None | None | None | I |
| S/F | 0.2325 | likely_benign | 0.1945 | benign | -0.914 | Destabilizing | 0.976 | D | 0.619 | neutral | N | 0.482467919 | None | None | I |
| S/G | 0.0719 | likely_benign | 0.0711 | benign | -0.202 | Destabilizing | 0.338 | N | 0.386 | neutral | None | None | None | None | I |
| S/H | 0.2851 | likely_benign | 0.274 | benign | -0.524 | Destabilizing | 0.995 | D | 0.433 | neutral | None | None | None | None | I |
| S/I | 0.153 | likely_benign | 0.137 | benign | -0.192 | Destabilizing | 0.897 | D | 0.601 | neutral | None | None | None | None | I |
| S/K | 0.3561 | ambiguous | 0.3527 | ambiguous | -0.425 | Destabilizing | 0.712 | D | 0.469 | neutral | None | None | None | None | I |
| S/L | 0.0887 | likely_benign | 0.0822 | benign | -0.192 | Destabilizing | 0.712 | D | 0.464 | neutral | None | None | None | None | I |
| S/M | 0.1578 | likely_benign | 0.1516 | benign | -0.154 | Destabilizing | 0.995 | D | 0.435 | neutral | None | None | None | None | I |
| S/N | 0.1095 | likely_benign | 0.1086 | benign | -0.168 | Destabilizing | 0.834 | D | 0.562 | neutral | None | None | None | None | I |
| S/P | 0.09 | likely_benign | 0.087 | benign | -0.159 | Destabilizing | 0.006 | N | 0.266 | neutral | N | 0.481499281 | None | None | I |
| S/Q | 0.2959 | likely_benign | 0.3001 | benign | -0.403 | Destabilizing | 0.946 | D | 0.443 | neutral | None | None | None | None | I |
| S/R | 0.3435 | ambiguous | 0.33 | benign | -0.155 | Destabilizing | 0.946 | D | 0.487 | neutral | None | None | None | None | I |
| S/T | 0.0692 | likely_benign | 0.0673 | benign | -0.273 | Destabilizing | 0.024 | N | 0.231 | neutral | N | 0.435764205 | None | None | I |
| S/V | 0.1326 | likely_benign | 0.1246 | benign | -0.159 | Destabilizing | 0.553 | D | 0.489 | neutral | None | None | None | None | I |
| S/W | 0.3689 | ambiguous | 0.3133 | benign | -1.004 | Destabilizing | 0.995 | D | 0.715 | prob.delet. | None | None | None | None | I |
| S/Y | 0.2239 | likely_benign | 0.1977 | benign | -0.687 | Destabilizing | 0.976 | D | 0.62 | neutral | N | 0.494077714 | 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.