Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6637 | 20134;20135;20136 | chr2:178727669;178727668;178727667 | chr2:179592396;179592395;179592394 |
| N2AB | 6320 | 19183;19184;19185 | chr2:178727669;178727668;178727667 | chr2:179592396;179592395;179592394 |
| N2A | 5393 | 16402;16403;16404 | chr2:178727669;178727668;178727667 | chr2:179592396;179592395;179592394 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1240731918  |
-0.302 | 0.015 | N | 0.136 | 0.324 | 0.187945064343 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1240731918 |
-0.302 | 0.015 | N | 0.136 | 0.324 | 0.187945064343 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1240731918 |
-0.302 | 0.015 | N | 0.136 | 0.324 | 0.187945064343 | gnomAD-4.0.0 | 1.31546E-05 | None | None | None | None | N | None | 4.83022E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | None | None | 0.92 | N | 0.399 | 0.421 | 0.57026793815 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/Y | None | None | 0.996 | D | 0.39 | 0.421 | 0.684780014046 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2849 | likely_benign | 0.2856 | benign | -0.403 | Destabilizing | 0.134 | N | 0.214 | neutral | N | 0.484188162 | None | None | N |
| D/C | 0.8022 | likely_pathogenic | 0.8145 | pathogenic | 0.113 | Stabilizing | 0.999 | D | 0.387 | neutral | None | None | None | None | N |
| D/E | 0.3204 | likely_benign | 0.3099 | benign | -0.334 | Destabilizing | 0.826 | D | 0.267 | neutral | N | 0.440434598 | None | None | N |
| D/F | 0.7897 | likely_pathogenic | 0.7841 | pathogenic | -0.324 | Destabilizing | 0.997 | D | 0.391 | neutral | None | None | None | None | N |
| D/G | 0.2446 | likely_benign | 0.2411 | benign | -0.63 | Destabilizing | 0.015 | N | 0.136 | neutral | N | 0.479937135 | None | None | N |
| D/H | 0.4464 | ambiguous | 0.4847 | ambiguous | -0.354 | Destabilizing | 0.988 | D | 0.357 | neutral | N | 0.517455373 | None | None | N |
| D/I | 0.6074 | likely_pathogenic | 0.6179 | pathogenic | 0.154 | Stabilizing | 0.991 | D | 0.405 | neutral | None | None | None | None | N |
| D/K | 0.604 | likely_pathogenic | 0.6355 | pathogenic | 0.328 | Stabilizing | 0.079 | N | 0.155 | neutral | None | None | None | None | N |
| D/L | 0.5875 | likely_pathogenic | 0.5883 | pathogenic | 0.154 | Stabilizing | 0.939 | D | 0.409 | neutral | None | None | None | None | N |
| D/M | 0.7742 | likely_pathogenic | 0.7827 | pathogenic | 0.456 | Stabilizing | 0.999 | D | 0.38 | neutral | None | None | None | None | N |
| D/N | 0.1435 | likely_benign | 0.1463 | benign | -0.044 | Destabilizing | 0.134 | N | 0.167 | neutral | N | 0.474491243 | None | None | N |
| D/P | 0.8106 | likely_pathogenic | 0.8284 | pathogenic | -0.009 | Destabilizing | 0.991 | D | 0.375 | neutral | None | None | None | None | N |
| D/Q | 0.549 | ambiguous | 0.5878 | pathogenic | 0.006 | Stabilizing | 0.982 | D | 0.331 | neutral | None | None | None | None | N |
| D/R | 0.6324 | likely_pathogenic | 0.6689 | pathogenic | 0.4 | Stabilizing | 0.884 | D | 0.38 | neutral | None | None | None | None | N |
| D/S | 0.1756 | likely_benign | 0.1777 | benign | -0.157 | Destabilizing | 0.759 | D | 0.261 | neutral | None | None | None | None | N |
| D/T | 0.3368 | likely_benign | 0.3452 | ambiguous | 0.028 | Stabilizing | 0.939 | D | 0.335 | neutral | None | None | None | None | N |
| D/V | 0.3872 | ambiguous | 0.4019 | ambiguous | -0.009 | Destabilizing | 0.92 | D | 0.399 | neutral | N | 0.483246799 | None | None | N |
| D/W | 0.9544 | likely_pathogenic | 0.9584 | pathogenic | -0.168 | Destabilizing | 0.999 | D | 0.476 | neutral | None | None | None | None | N |
| D/Y | 0.4255 | ambiguous | 0.4327 | ambiguous | -0.076 | Destabilizing | 0.996 | D | 0.39 | neutral | D | 0.526786933 | 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.