Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5739 | 17440;17441;17442 | chr2:178731551;178731550;178731549 | chr2:179596278;179596277;179596276 |
| N2AB | 5422 | 16489;16490;16491 | chr2:178731551;178731550;178731549 | chr2:179596278;179596277;179596276 |
| N2A | 4495 | 13708;13709;13710 | chr2:178731551;178731550;178731549 | chr2:179596278;179596277;179596276 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs751087281  |
None | 0.001 | N | 0.193 | 0.159 | 0.388174495139 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs751087281 |
None | 0.001 | N | 0.193 | 0.159 | 0.388174495139 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 2.41476E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | None | -0.042 | 0.351 | N | 0.375 | 0.26 | None | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| T/S | rs751087281 |
-0.407 | 0.021 | D | 0.183 | 0.145 | 0.21737058555 | gnomAD-4.0.0 | 3.1997E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.87604E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0713 | likely_benign | 0.0721 | benign | -0.887 | Destabilizing | 0.047 | N | 0.291 | neutral | N | 0.500464336 | None | None | N |
| T/C | 0.3367 | likely_benign | 0.356 | ambiguous | -0.421 | Destabilizing | 0.94 | D | 0.35 | neutral | None | None | None | None | N |
| T/D | 0.3732 | ambiguous | 0.3758 | ambiguous | 0.711 | Stabilizing | 0.418 | N | 0.419 | neutral | None | None | None | None | N |
| T/E | 0.2842 | likely_benign | 0.2807 | benign | 0.68 | Stabilizing | 0.418 | N | 0.393 | neutral | None | None | None | None | N |
| T/F | 0.1653 | likely_benign | 0.1707 | benign | -1.254 | Destabilizing | 0.716 | D | 0.455 | neutral | None | None | None | None | N |
| T/G | 0.2271 | likely_benign | 0.2332 | benign | -1.06 | Destabilizing | 0.418 | N | 0.411 | neutral | None | None | None | None | N |
| T/H | 0.2104 | likely_benign | 0.2165 | benign | -1.395 | Destabilizing | 0.983 | D | 0.387 | neutral | None | None | None | None | N |
| T/I | 0.09 | likely_benign | 0.0889 | benign | -0.527 | Destabilizing | 0.001 | N | 0.193 | neutral | N | 0.460713869 | None | None | N |
| T/K | 0.182 | likely_benign | 0.177 | benign | -0.242 | Destabilizing | 0.418 | N | 0.375 | neutral | None | None | None | None | N |
| T/L | 0.0804 | likely_benign | 0.0792 | benign | -0.527 | Destabilizing | 0.001 | N | 0.175 | neutral | None | None | None | None | N |
| T/M | 0.0822 | likely_benign | 0.0826 | benign | -0.223 | Destabilizing | 0.716 | D | 0.377 | neutral | None | None | None | None | N |
| T/N | 0.1163 | likely_benign | 0.1246 | benign | -0.044 | Destabilizing | 0.351 | N | 0.375 | neutral | N | 0.497987368 | None | None | N |
| T/P | 0.2557 | likely_benign | 0.284 | benign | -0.619 | Destabilizing | 0.002 | N | 0.281 | neutral | D | 0.532000751 | None | None | N |
| T/Q | 0.2043 | likely_benign | 0.2063 | benign | -0.236 | Destabilizing | 0.836 | D | 0.399 | neutral | None | None | None | None | N |
| T/R | 0.1425 | likely_benign | 0.136 | benign | -0.144 | Destabilizing | 0.836 | D | 0.412 | neutral | None | None | None | None | N |
| T/S | 0.0995 | likely_benign | 0.1038 | benign | -0.461 | Destabilizing | 0.021 | N | 0.183 | neutral | D | 0.523495911 | None | None | N |
| T/V | 0.0886 | likely_benign | 0.0854 | benign | -0.619 | Destabilizing | 0.004 | N | 0.09 | neutral | None | None | None | None | N |
| T/W | 0.508 | ambiguous | 0.5439 | ambiguous | -1.119 | Destabilizing | 0.983 | D | 0.434 | neutral | None | None | None | None | N |
| T/Y | 0.2084 | likely_benign | 0.2267 | benign | -0.871 | Destabilizing | 0.836 | D | 0.414 | 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.