Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17337 | 52234;52235;52236 | chr2:178609301;178609300;178609299 | chr2:179474028;179474027;179474026 |
| N2AB | 15696 | 47311;47312;47313 | chr2:178609301;178609300;178609299 | chr2:179474028;179474027;179474026 |
| N2A | 14769 | 44530;44531;44532 | chr2:178609301;178609300;178609299 | chr2:179474028;179474027;179474026 |
| N2B | 8272 | 25039;25040;25041 | chr2:178609301;178609300;178609299 | chr2:179474028;179474027;179474026 |
| Novex-1 | 8397 | 25414;25415;25416 | chr2:178609301;178609300;178609299 | chr2:179474028;179474027;179474026 |
| Novex-2 | 8464 | 25615;25616;25617 | chr2:178609301;178609300;178609299 | chr2:179474028;179474027;179474026 |
| 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/L | rs775700218  |
0.04 | 0.983 | N | 0.485 | 0.369 | 0.644543759818 | gnomAD-2.1.1 | 4.19E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.55E-05 | None | 0 | 0 | 0 |
| R/L | rs775700218 |
0.04 | 0.983 | N | 0.485 | 0.369 | 0.644543759818 | gnomAD-4.0.0 | 2.07002E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.57628E-05 | 0 |
| R/Q | rs775700218 |
-0.351 | 0.985 | N | 0.46 | 0.196 | 0.353548585375 | gnomAD-2.1.1 | 1.85E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.25E-05 | None | 0 | None | 0 | 3.23E-05 | 0 |
| R/Q | rs775700218 |
-0.351 | 0.985 | N | 0.46 | 0.196 | 0.353548585375 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 3.16456E-03 | 2.94E-05 | 0 | 0 |
| R/Q | rs775700218 |
-0.351 | 0.985 | N | 0.46 | 0.196 | 0.353548585375 | gnomAD-4.0.0 | 2.62284E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.57654E-05 | 1.665E-04 | 3.3224E-05 | 1.12729E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4168 | ambiguous | 0.4678 | ambiguous | -0.458 | Destabilizing | 0.863 | D | 0.449 | neutral | None | None | None | None | N |
| R/C | 0.2442 | likely_benign | 0.2709 | benign | -0.465 | Destabilizing | 0.999 | D | 0.471 | neutral | None | None | None | None | N |
| R/D | 0.7394 | likely_pathogenic | 0.78 | pathogenic | 0.002 | Stabilizing | 0.02 | N | 0.233 | neutral | None | None | None | None | N |
| R/E | 0.415 | ambiguous | 0.4438 | ambiguous | 0.096 | Stabilizing | 0.759 | D | 0.411 | neutral | None | None | None | None | N |
| R/F | 0.5397 | ambiguous | 0.5623 | ambiguous | -0.48 | Destabilizing | 0.997 | D | 0.482 | neutral | None | None | None | None | N |
| R/G | 0.341 | ambiguous | 0.3949 | ambiguous | -0.723 | Destabilizing | 0.967 | D | 0.493 | neutral | N | 0.496025585 | None | None | N |
| R/H | 0.1292 | likely_benign | 0.1448 | benign | -1.08 | Destabilizing | 0.997 | D | 0.476 | neutral | None | None | None | None | N |
| R/I | 0.2708 | likely_benign | 0.2973 | benign | 0.231 | Stabilizing | 0.997 | D | 0.496 | neutral | None | None | None | None | N |
| R/K | 0.1071 | likely_benign | 0.1148 | benign | -0.488 | Destabilizing | 0.079 | N | 0.128 | neutral | None | None | None | None | N |
| R/L | 0.2762 | likely_benign | 0.3153 | benign | 0.231 | Stabilizing | 0.983 | D | 0.485 | neutral | N | 0.513606992 | None | None | N |
| R/M | 0.3039 | likely_benign | 0.3312 | benign | -0.099 | Destabilizing | 0.997 | D | 0.478 | neutral | None | None | None | None | N |
| R/N | 0.6178 | likely_pathogenic | 0.6661 | pathogenic | -0.004 | Destabilizing | 0.939 | D | 0.442 | neutral | None | None | None | None | N |
| R/P | 0.6091 | likely_pathogenic | 0.6725 | pathogenic | 0.023 | Stabilizing | 0.998 | D | 0.501 | neutral | N | 0.498061536 | None | None | N |
| R/Q | 0.1278 | likely_benign | 0.1379 | benign | -0.196 | Destabilizing | 0.985 | D | 0.46 | neutral | N | 0.514740355 | None | None | N |
| R/S | 0.5462 | ambiguous | 0.6053 | pathogenic | -0.648 | Destabilizing | 0.939 | D | 0.465 | neutral | None | None | None | None | N |
| R/T | 0.2582 | likely_benign | 0.2954 | benign | -0.39 | Destabilizing | 0.969 | D | 0.463 | neutral | None | None | None | None | N |
| R/V | 0.359 | ambiguous | 0.3866 | ambiguous | 0.023 | Stabilizing | 0.969 | D | 0.511 | neutral | None | None | None | None | N |
| R/W | 0.1913 | likely_benign | 0.1986 | benign | -0.268 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| R/Y | 0.4297 | ambiguous | 0.4476 | ambiguous | 0.074 | Stabilizing | 0.997 | D | 0.495 | 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.