Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9402 | 28429;28430;28431 | chr2:178710893;178710892;178710891 | chr2:179575620;179575619;179575618 |
| N2AB | 9085 | 27478;27479;27480 | chr2:178710893;178710892;178710891 | chr2:179575620;179575619;179575618 |
| N2A | 8158 | 24697;24698;24699 | chr2:178710893;178710892;178710891 | chr2:179575620;179575619;179575618 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs369553799  |
-0.14 | 0.807 | None | 0.427 | 0.379 | None | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | I | None | 1.65371E-04 | 8.49E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.86E-06 | 0 |
| R/C | rs369553799 |
-0.14 | 0.807 | None | 0.427 | 0.379 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs369553799 |
-0.14 | 0.807 | None | 0.427 | 0.379 | None | gnomAD-4.0.0 | 2.60337E-05 | None | None | None | None | I | None | 6.67485E-05 | 5.00117E-05 | None | 0 | 0 | None | 0 | 0 | 2.71316E-05 | 1.09825E-05 | 1.60133E-05 |
| R/G | None | None | 0.015 | None | 0.336 | 0.194 | 0.504235531984 | gnomAD-4.0.0 | 6.84397E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99756E-07 | 0 | 0 |
| R/H | rs773986121 |
-0.706 | None | None | 0.136 | 0.134 | None | gnomAD-2.1.1 | 6.08E-05 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.09911E-04 | 1.40766E-04 |
| R/H | rs773986121 |
-0.706 | None | None | 0.136 | 0.134 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | I | None | 1.44858E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/H | rs773986121 |
-0.706 | None | None | 0.136 | 0.134 | None | gnomAD-4.0.0 | 3.40917E-05 | None | None | None | None | I | None | 1.0682E-04 | 1.66717E-05 | None | 0 | 1.78229E-04 | None | 1.5626E-05 | 0 | 2.88267E-05 | 0 | 4.80446E-05 |
| R/L | None | None | 0.015 | None | 0.356 | 0.136 | 0.340032825777 | gnomAD-4.0.0 | 3.42187E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49868E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1721 | likely_benign | 0.1433 | benign | -0.572 | Destabilizing | 0.002 | N | 0.298 | neutral | None | None | None | None | I |
| R/C | 0.1342 | likely_benign | 0.1166 | benign | -0.575 | Destabilizing | 0.807 | D | 0.427 | neutral | None | None | None | None | I |
| R/D | 0.371 | ambiguous | 0.4082 | ambiguous | 0.105 | Stabilizing | 0.008 | N | 0.351 | neutral | None | None | None | None | I |
| R/E | 0.2316 | likely_benign | 0.2218 | benign | 0.242 | Stabilizing | 0.004 | N | 0.211 | neutral | None | None | None | None | I |
| R/F | 0.3305 | likely_benign | 0.3334 | benign | -0.381 | Destabilizing | 0.085 | N | 0.565 | neutral | None | None | None | None | I |
| R/G | 0.1367 | likely_benign | 0.1356 | benign | -0.877 | Destabilizing | 0.015 | N | 0.336 | neutral | None | None | None | None | I |
| R/H | 0.0797 | likely_benign | 0.0874 | benign | -1.21 | Destabilizing | None | N | 0.136 | neutral | None | None | None | None | I |
| R/I | 0.1728 | likely_benign | 0.1631 | benign | 0.242 | Stabilizing | 0.085 | N | 0.597 | neutral | None | None | None | None | I |
| R/K | 0.0901 | likely_benign | 0.0915 | benign | -0.439 | Destabilizing | None | N | 0.118 | neutral | None | None | None | None | I |
| R/L | 0.1263 | likely_benign | 0.1149 | benign | 0.242 | Stabilizing | 0.015 | N | 0.356 | neutral | None | None | None | None | I |
| R/M | 0.1978 | likely_benign | 0.1879 | benign | -0.253 | Destabilizing | 0.497 | N | 0.427 | neutral | None | None | None | None | I |
| R/N | 0.2525 | likely_benign | 0.3 | benign | -0.115 | Destabilizing | 0.018 | N | 0.26 | neutral | None | None | None | None | I |
| R/P | 0.1009 | likely_benign | 0.0745 | benign | -0.008 | Destabilizing | None | N | 0.225 | neutral | None | None | None | None | I |
| R/Q | 0.086 | likely_benign | 0.082 | benign | -0.194 | Destabilizing | 0.018 | N | 0.353 | neutral | None | None | None | None | I |
| R/S | 0.1958 | likely_benign | 0.1955 | benign | -0.804 | Destabilizing | None | N | 0.183 | neutral | None | None | None | None | I |
| R/T | 0.1327 | likely_benign | 0.1202 | benign | -0.478 | Destabilizing | 0.004 | N | 0.297 | neutral | None | None | None | None | I |
| R/V | 0.217 | likely_benign | 0.1881 | benign | -0.008 | Destabilizing | 0.018 | N | 0.403 | neutral | None | None | None | None | I |
| R/W | 0.1446 | likely_benign | 0.1575 | benign | -0.127 | Destabilizing | 0.788 | D | 0.419 | neutral | None | None | None | None | I |
| R/Y | 0.232 | likely_benign | 0.2405 | benign | 0.177 | Stabilizing | 0.044 | N | 0.587 | neutral | None | None | None | None | I |
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.