Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6226 | 18901;18902;18903 | chr2:178729480;178729479;178729478 | chr2:179594207;179594206;179594205 |
| N2AB | 5909 | 17950;17951;17952 | chr2:178729480;178729479;178729478 | chr2:179594207;179594206;179594205 |
| N2A | 4982 | 15169;15170;15171 | chr2:178729480;178729479;178729478 | chr2:179594207;179594206;179594205 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs746345160  |
None | 0.295 | D | 0.547 | 0.539 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/H | rs746345160 |
None | 0.295 | D | 0.547 | 0.539 | None | gnomAD-4.0.0 | 1.9728E-05 | None | None | None | None | I | None | 7.24673E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs746345160 |
-0.045 | 0.012 | D | 0.427 | 0.388 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/L | rs746345160 |
-0.045 | 0.012 | D | 0.427 | 0.388 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs746345160 |
-0.045 | 0.012 | D | 0.427 | 0.388 | None | gnomAD-4.0.0 | 8.05745E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.29272E-04 | 8.47722E-06 | 0 | 1.60138E-05 |
| P/S | rs1466849790 |
-0.599 | None | N | 0.139 | 0.32 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1466849790 |
-0.599 | None | N | 0.139 | 0.32 | None | gnomAD-4.0.0 | 2.05288E-06 | None | None | None | None | I | None | 8.96807E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs1466849790 |
None | None | D | 0.188 | 0.33 | 0.0401082797425 | gnomAD-4.0.0 | 6.84292E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9957E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0582 | likely_benign | 0.0617 | benign | -0.537 | Destabilizing | None | N | 0.148 | neutral | D | 0.526200648 | None | None | I |
| P/C | 0.3591 | ambiguous | 0.426 | ambiguous | -0.702 | Destabilizing | 0.676 | D | 0.573 | neutral | None | None | None | None | I |
| P/D | 0.351 | ambiguous | 0.342 | ambiguous | -0.461 | Destabilizing | 0.038 | N | 0.501 | neutral | None | None | None | None | I |
| P/E | 0.2252 | likely_benign | 0.2124 | benign | -0.545 | Destabilizing | 0.038 | N | 0.43 | neutral | None | None | None | None | I |
| P/F | 0.2728 | likely_benign | 0.3009 | benign | -0.666 | Destabilizing | 0.356 | N | 0.597 | neutral | None | None | None | None | I |
| P/G | 0.1593 | likely_benign | 0.1792 | benign | -0.679 | Destabilizing | 0.016 | N | 0.396 | neutral | None | None | None | None | I |
| P/H | 0.1548 | likely_benign | 0.1611 | benign | -0.139 | Destabilizing | 0.295 | N | 0.547 | neutral | D | 0.571613947 | None | None | I |
| P/I | 0.2143 | likely_benign | 0.2377 | benign | -0.297 | Destabilizing | 0.038 | N | 0.563 | neutral | None | None | None | None | I |
| P/K | 0.2351 | likely_benign | 0.2235 | benign | -0.548 | Destabilizing | 0.038 | N | 0.472 | neutral | None | None | None | None | I |
| P/L | 0.1008 | likely_benign | 0.1001 | benign | -0.297 | Destabilizing | 0.012 | N | 0.427 | neutral | D | 0.581132697 | None | None | I |
| P/M | 0.2033 | likely_benign | 0.2222 | benign | -0.545 | Destabilizing | 0.356 | N | 0.565 | neutral | None | None | None | None | I |
| P/N | 0.2288 | likely_benign | 0.2537 | benign | -0.361 | Destabilizing | 0.038 | N | 0.579 | neutral | None | None | None | None | I |
| P/Q | 0.1297 | likely_benign | 0.1246 | benign | -0.558 | Destabilizing | 0.214 | N | 0.562 | neutral | None | None | None | None | I |
| P/R | 0.17 | likely_benign | 0.1516 | benign | -0.047 | Destabilizing | 0.171 | N | 0.591 | neutral | D | 0.580729089 | None | None | I |
| P/S | 0.0746 | likely_benign | 0.0841 | benign | -0.694 | Destabilizing | None | N | 0.139 | neutral | N | 0.510092413 | None | None | I |
| P/T | 0.0895 | likely_benign | 0.0977 | benign | -0.677 | Destabilizing | None | N | 0.188 | neutral | D | 0.545904391 | None | None | I |
| P/V | 0.1601 | likely_benign | 0.1719 | benign | -0.344 | Destabilizing | 0.001 | N | 0.243 | neutral | None | None | None | None | I |
| P/W | 0.4558 | ambiguous | 0.4686 | ambiguous | -0.76 | Destabilizing | 0.864 | D | 0.596 | neutral | None | None | None | None | I |
| P/Y | 0.2448 | likely_benign | 0.2707 | benign | -0.472 | Destabilizing | 0.356 | N | 0.597 | 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.