Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15815 | 47668;47669;47670 | chr2:178617908;178617907;178617906 | chr2:179482635;179482634;179482633 |
| N2AB | 14174 | 42745;42746;42747 | chr2:178617908;178617907;178617906 | chr2:179482635;179482634;179482633 |
| N2A | 13247 | 39964;39965;39966 | chr2:178617908;178617907;178617906 | chr2:179482635;179482634;179482633 |
| N2B | 6750 | 20473;20474;20475 | chr2:178617908;178617907;178617906 | chr2:179482635;179482634;179482633 |
| Novex-1 | 6875 | 20848;20849;20850 | chr2:178617908;178617907;178617906 | chr2:179482635;179482634;179482633 |
| Novex-2 | 6942 | 21049;21050;21051 | chr2:178617908;178617907;178617906 | chr2:179482635;179482634;179482633 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1429370972  |
-0.423 | 0.822 | N | 0.489 | 0.282 | 0.227260227426 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| D/N | rs1429370972 |
-0.423 | 0.822 | N | 0.489 | 0.282 | 0.227260227426 | gnomAD-4.0.0 | 4.10762E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39953E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1937 | likely_benign | 0.1939 | benign | 0.046 | Stabilizing | 0.698 | D | 0.521 | neutral | N | 0.475049133 | None | None | N |
| D/C | 0.6233 | likely_pathogenic | 0.5679 | pathogenic | 0.139 | Stabilizing | 0.998 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/E | 0.1361 | likely_benign | 0.1305 | benign | -0.45 | Destabilizing | 0.006 | N | 0.2 | neutral | N | 0.41208871 | None | None | N |
| D/F | 0.5402 | ambiguous | 0.5319 | ambiguous | 0.704 | Stabilizing | 0.993 | D | 0.694 | prob.neutral | None | None | None | None | N |
| D/G | 0.2278 | likely_benign | 0.2395 | benign | -0.387 | Destabilizing | 0.822 | D | 0.504 | neutral | N | 0.478956418 | None | None | N |
| D/H | 0.3009 | likely_benign | 0.2924 | benign | 0.404 | Stabilizing | 0.992 | D | 0.623 | neutral | N | 0.480989714 | None | None | N |
| D/I | 0.3864 | ambiguous | 0.3591 | ambiguous | 1.208 | Stabilizing | 0.978 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/K | 0.3866 | ambiguous | 0.3751 | ambiguous | -0.019 | Destabilizing | 0.754 | D | 0.466 | neutral | None | None | None | None | N |
| D/L | 0.3976 | ambiguous | 0.3759 | ambiguous | 1.208 | Stabilizing | 0.956 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/M | 0.5428 | ambiguous | 0.5111 | ambiguous | 1.541 | Stabilizing | 0.998 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/N | 0.1092 | likely_benign | 0.1091 | benign | -0.675 | Destabilizing | 0.822 | D | 0.489 | neutral | N | 0.478082316 | None | None | N |
| D/P | 0.8839 | likely_pathogenic | 0.8753 | pathogenic | 0.849 | Stabilizing | 0.978 | D | 0.605 | neutral | None | None | None | None | N |
| D/Q | 0.2775 | likely_benign | 0.2698 | benign | -0.406 | Destabilizing | 0.915 | D | 0.517 | neutral | None | None | None | None | N |
| D/R | 0.4465 | ambiguous | 0.4371 | ambiguous | 0.107 | Stabilizing | 0.956 | D | 0.644 | neutral | None | None | None | None | N |
| D/S | 0.1581 | likely_benign | 0.1562 | benign | -0.967 | Destabilizing | 0.754 | D | 0.446 | neutral | None | None | None | None | N |
| D/T | 0.254 | likely_benign | 0.232 | benign | -0.589 | Destabilizing | 0.956 | D | 0.525 | neutral | None | None | None | None | N |
| D/V | 0.2185 | likely_benign | 0.2119 | benign | 0.849 | Stabilizing | 0.942 | D | 0.675 | prob.neutral | N | 0.473906723 | None | None | N |
| D/W | 0.8366 | likely_pathogenic | 0.8422 | pathogenic | 0.81 | Stabilizing | 0.998 | D | 0.675 | neutral | None | None | None | None | N |
| D/Y | 0.1829 | likely_benign | 0.1819 | benign | 0.971 | Stabilizing | 0.99 | D | 0.693 | prob.neutral | N | 0.471384522 | 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.