Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2673 | 8242;8243;8244 | chr2:178771310;178771309;178771308 | chr2:179636037;179636036;179636035 |
| N2AB | 2673 | 8242;8243;8244 | chr2:178771310;178771309;178771308 | chr2:179636037;179636036;179636035 |
| N2A | 2673 | 8242;8243;8244 | chr2:178771310;178771309;178771308 | chr2:179636037;179636036;179636035 |
| N2B | 2627 | 8104;8105;8106 | chr2:178771310;178771309;178771308 | chr2:179636037;179636036;179636035 |
| Novex-1 | 2627 | 8104;8105;8106 | chr2:178771310;178771309;178771308 | chr2:179636037;179636036;179636035 |
| Novex-2 | 2627 | 8104;8105;8106 | chr2:178771310;178771309;178771308 | chr2:179636037;179636036;179636035 |
| Novex-3 | 2673 | 8242;8243;8244 | chr2:178771310;178771309;178771308 | chr2:179636037;179636036;179636035 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | None | None | 0.996 | N | 0.505 | 0.318 | 0.267755039894 | gnomAD-4.0.0 | 1.59058E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85656E-06 | 0 | 0 |
| K/R | rs1060500389  |
-0.577 | 0.986 | N | 0.45 | 0.249 | 0.311691414656 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.41849E-04 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs1060500389 |
-0.577 | 0.986 | N | 0.45 | 0.249 | 0.311691414656 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs1060500389 |
-0.577 | 0.986 | N | 0.45 | 0.249 | 0.311691414656 | gnomAD-4.0.0 | 6.57125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4978 | ambiguous | 0.523 | ambiguous | -0.418 | Destabilizing | 0.863 | D | 0.435 | neutral | None | None | None | None | N |
| K/C | 0.6847 | likely_pathogenic | 0.6969 | pathogenic | -0.818 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| K/D | 0.7995 | likely_pathogenic | 0.8094 | pathogenic | -1.097 | Destabilizing | 0.997 | D | 0.541 | neutral | None | None | None | None | N |
| K/E | 0.2771 | likely_benign | 0.2725 | benign | -1.0 | Destabilizing | 0.986 | D | 0.438 | neutral | N | 0.508857011 | None | None | N |
| K/F | 0.7626 | likely_pathogenic | 0.7713 | pathogenic | -0.294 | Destabilizing | 0.991 | D | 0.618 | neutral | None | None | None | None | N |
| K/G | 0.6266 | likely_pathogenic | 0.6442 | pathogenic | -0.768 | Destabilizing | 0.99 | D | 0.579 | neutral | None | None | None | None | N |
| K/H | 0.3677 | ambiguous | 0.3779 | ambiguous | -1.216 | Destabilizing | 0.999 | D | 0.515 | neutral | None | None | None | None | N |
| K/I | 0.2298 | likely_benign | 0.2378 | benign | 0.482 | Stabilizing | 0.134 | N | 0.343 | neutral | N | 0.489784977 | None | None | N |
| K/L | 0.342 | ambiguous | 0.3584 | ambiguous | 0.482 | Stabilizing | 0.759 | D | 0.429 | neutral | None | None | None | None | N |
| K/M | 0.2354 | likely_benign | 0.2368 | benign | 0.43 | Stabilizing | 0.991 | D | 0.555 | neutral | None | None | None | None | N |
| K/N | 0.5397 | ambiguous | 0.5646 | pathogenic | -0.88 | Destabilizing | 0.996 | D | 0.489 | neutral | N | 0.511374098 | None | None | N |
| K/P | 0.96 | likely_pathogenic | 0.9531 | pathogenic | 0.212 | Stabilizing | 0.997 | D | 0.553 | neutral | None | None | None | None | N |
| K/Q | 0.1543 | likely_benign | 0.1547 | benign | -1.028 | Destabilizing | 0.996 | D | 0.505 | neutral | N | 0.512474571 | None | None | N |
| K/R | 0.0925 | likely_benign | 0.0911 | benign | -0.728 | Destabilizing | 0.986 | D | 0.45 | neutral | N | 0.496827682 | None | None | N |
| K/S | 0.525 | ambiguous | 0.5526 | ambiguous | -1.329 | Destabilizing | 0.969 | D | 0.415 | neutral | None | None | None | None | N |
| K/T | 0.1731 | likely_benign | 0.1866 | benign | -1.043 | Destabilizing | 0.92 | D | 0.513 | neutral | N | 0.488236178 | None | None | N |
| K/V | 0.2541 | likely_benign | 0.2683 | benign | 0.212 | Stabilizing | 0.028 | N | 0.251 | neutral | None | None | None | None | N |
| K/W | 0.8018 | likely_pathogenic | 0.8038 | pathogenic | -0.283 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| K/Y | 0.6696 | likely_pathogenic | 0.6788 | pathogenic | 0.11 | Stabilizing | 0.997 | D | 0.613 | 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.