Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27514 | 82765;82766;82767 | chr2:178563592;178563591;178563590 | chr2:179428319;179428318;179428317 |
| N2AB | 25873 | 77842;77843;77844 | chr2:178563592;178563591;178563590 | chr2:179428319;179428318;179428317 |
| N2A | 24946 | 75061;75062;75063 | chr2:178563592;178563591;178563590 | chr2:179428319;179428318;179428317 |
| N2B | 18449 | 55570;55571;55572 | chr2:178563592;178563591;178563590 | chr2:179428319;179428318;179428317 |
| Novex-1 | 18574 | 55945;55946;55947 | chr2:178563592;178563591;178563590 | chr2:179428319;179428318;179428317 |
| Novex-2 | 18641 | 56146;56147;56148 | chr2:178563592;178563591;178563590 | chr2:179428319;179428318;179428317 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs745920301  |
-0.531 | 0.541 | N | 0.377 | 0.199 | 0.224531998449 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/F | rs745920301 |
-0.531 | 0.541 | N | 0.377 | 0.199 | 0.224531998449 | gnomAD-4.0.0 | 6.84211E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| V/I | rs745920301 |
-0.035 | None | N | 0.211 | 0.148 | 0.115124310173 | gnomAD-2.1.1 | 1.78E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 1.56E-05 | 0 |
| V/I | rs745920301 |
-0.035 | None | N | 0.211 | 0.148 | 0.115124310173 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 4.14594E-04 | 0 |
| V/I | rs745920301 |
-0.035 | None | N | 0.211 | 0.148 | 0.115124310173 | gnomAD-4.0.0 | 2.10689E-05 | None | None | None | None | N | None | 3.99936E-05 | 1.66683E-05 | None | 0 | 0 | None | 0 | 1.64962E-04 | 1.35621E-05 | 1.42738E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2841 | likely_benign | 0.3089 | benign | -0.374 | Destabilizing | 0.052 | N | 0.418 | neutral | N | 0.468706129 | None | None | N |
| V/C | 0.6464 | likely_pathogenic | 0.7003 | pathogenic | -0.851 | Destabilizing | 0.935 | D | 0.419 | neutral | None | None | None | None | N |
| V/D | 0.6065 | likely_pathogenic | 0.6163 | pathogenic | -0.299 | Destabilizing | 0.484 | N | 0.473 | neutral | N | 0.463935028 | None | None | N |
| V/E | 0.5248 | ambiguous | 0.5408 | ambiguous | -0.41 | Destabilizing | 0.555 | D | 0.445 | neutral | None | None | None | None | N |
| V/F | 0.137 | likely_benign | 0.1628 | benign | -0.711 | Destabilizing | 0.541 | D | 0.377 | neutral | N | 0.472938947 | None | None | N |
| V/G | 0.2644 | likely_benign | 0.2724 | benign | -0.434 | Destabilizing | 0.484 | N | 0.445 | neutral | N | 0.409559038 | None | None | N |
| V/H | 0.6358 | likely_pathogenic | 0.6908 | pathogenic | 0.01 | Stabilizing | 0.935 | D | 0.495 | neutral | None | None | None | None | N |
| V/I | 0.0521 | likely_benign | 0.0588 | benign | -0.353 | Destabilizing | None | N | 0.211 | neutral | N | 0.458990568 | None | None | N |
| V/K | 0.5391 | ambiguous | 0.5633 | ambiguous | -0.411 | Destabilizing | 0.555 | D | 0.445 | neutral | None | None | None | None | N |
| V/L | 0.1037 | likely_benign | 0.1355 | benign | -0.353 | Destabilizing | 0.01 | N | 0.382 | neutral | N | 0.44742678 | None | None | N |
| V/M | 0.1092 | likely_benign | 0.1312 | benign | -0.632 | Destabilizing | 0.38 | N | 0.398 | neutral | None | None | None | None | N |
| V/N | 0.3004 | likely_benign | 0.3421 | ambiguous | -0.225 | Destabilizing | 0.791 | D | 0.473 | neutral | None | None | None | None | N |
| V/P | 0.4642 | ambiguous | 0.5392 | ambiguous | -0.332 | Destabilizing | 0.791 | D | 0.444 | neutral | None | None | None | None | N |
| V/Q | 0.4251 | ambiguous | 0.4587 | ambiguous | -0.425 | Destabilizing | 0.791 | D | 0.459 | neutral | None | None | None | None | N |
| V/R | 0.4494 | ambiguous | 0.4702 | ambiguous | 0.031 | Stabilizing | 0.555 | D | 0.481 | neutral | None | None | None | None | N |
| V/S | 0.2647 | likely_benign | 0.2905 | benign | -0.552 | Destabilizing | 0.555 | D | 0.391 | neutral | None | None | None | None | N |
| V/T | 0.2744 | likely_benign | 0.3001 | benign | -0.571 | Destabilizing | 0.149 | N | 0.351 | neutral | None | None | None | None | N |
| V/W | 0.719 | likely_pathogenic | 0.7677 | pathogenic | -0.755 | Destabilizing | 0.935 | D | 0.563 | neutral | None | None | None | None | N |
| V/Y | 0.4658 | ambiguous | 0.532 | ambiguous | -0.494 | Destabilizing | 0.555 | D | 0.393 | 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.