Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24276 | 73051;73052;73053 | chr2:178573306;178573305;178573304 | chr2:179438033;179438032;179438031 |
| N2AB | 22635 | 68128;68129;68130 | chr2:178573306;178573305;178573304 | chr2:179438033;179438032;179438031 |
| N2A | 21708 | 65347;65348;65349 | chr2:178573306;178573305;178573304 | chr2:179438033;179438032;179438031 |
| N2B | 15211 | 45856;45857;45858 | chr2:178573306;178573305;178573304 | chr2:179438033;179438032;179438031 |
| Novex-1 | 15336 | 46231;46232;46233 | chr2:178573306;178573305;178573304 | chr2:179438033;179438032;179438031 |
| Novex-2 | 15403 | 46432;46433;46434 | chr2:178573306;178573305;178573304 | chr2:179438033;179438032;179438031 |
| 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/A | rs373204984  |
None | None | N | 0.065 | 0.067 | 0.0846915920261 | gnomAD-4.0.0 | 1.40347E-06 | None | None | None | None | N | None | 3.10713E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.25257E-05 | 0 |
| T/P | None | None | None | N | 0.245 | 0.146 | 0.0884992946249 | gnomAD-4.0.0 | 7.01733E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.14406E-07 | 0 | 0 |
| T/S | rs373204984 |
-0.869 | 0.002 | N | 0.101 | 0.032 | 0.128392430309 | gnomAD-2.1.1 | 5.98E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.27237E-04 | 0 |
| T/S | rs373204984 |
-0.869 | 0.002 | N | 0.101 | 0.032 | 0.128392430309 | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.76533E-04 | 0 | 0 |
| T/S | rs373204984 |
-0.869 | 0.002 | N | 0.101 | 0.032 | 0.128392430309 | gnomAD-4.0.0 | 1.39491E-04 | None | None | None | None | N | None | 1.35678E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7218E-04 | 0 | 3.12315E-04 |
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 | 0.0687 | likely_benign | 0.0644 | benign | -0.445 | Destabilizing | None | N | 0.065 | neutral | N | 0.457544986 | None | None | N |
| T/C | 0.2947 | likely_benign | 0.2873 | benign | -0.204 | Destabilizing | 0.356 | N | 0.357 | neutral | None | None | None | None | N |
| T/D | 0.3469 | ambiguous | 0.3391 | benign | 0.036 | Stabilizing | 0.072 | N | 0.343 | neutral | None | None | None | None | N |
| T/E | 0.245 | likely_benign | 0.2392 | benign | -0.046 | Destabilizing | 0.072 | N | 0.359 | neutral | None | None | None | None | N |
| T/F | 0.1662 | likely_benign | 0.16 | benign | -0.93 | Destabilizing | 0.214 | N | 0.41 | neutral | None | None | None | None | N |
| T/G | 0.1778 | likely_benign | 0.1643 | benign | -0.575 | Destabilizing | 0.016 | N | 0.338 | neutral | None | None | None | None | N |
| T/H | 0.183 | likely_benign | 0.1769 | benign | -0.91 | Destabilizing | 0.356 | N | 0.353 | neutral | None | None | None | None | N |
| T/I | 0.0908 | likely_benign | 0.0886 | benign | -0.22 | Destabilizing | None | N | 0.137 | neutral | N | 0.478211047 | None | None | N |
| T/K | 0.1499 | likely_benign | 0.1444 | benign | -0.422 | Destabilizing | 0.038 | N | 0.351 | neutral | None | None | None | None | N |
| T/L | 0.0654 | likely_benign | 0.0697 | benign | -0.22 | Destabilizing | 0.016 | N | 0.371 | neutral | None | None | None | None | N |
| T/M | 0.072 | likely_benign | 0.0708 | benign | 0.081 | Stabilizing | 0.214 | N | 0.375 | neutral | None | None | None | None | N |
| T/N | 0.0837 | likely_benign | 0.0816 | benign | -0.142 | Destabilizing | 0.055 | N | 0.316 | neutral | N | 0.448290785 | None | None | N |
| T/P | 0.0608 | likely_benign | 0.0634 | benign | -0.267 | Destabilizing | None | N | 0.245 | neutral | N | 0.380142995 | None | None | N |
| T/Q | 0.1531 | likely_benign | 0.1447 | benign | -0.419 | Destabilizing | 0.214 | N | 0.429 | neutral | None | None | None | None | N |
| T/R | 0.1401 | likely_benign | 0.1318 | benign | -0.12 | Destabilizing | None | N | 0.201 | neutral | None | None | None | None | N |
| T/S | 0.0885 | likely_benign | 0.0861 | benign | -0.354 | Destabilizing | 0.002 | N | 0.101 | neutral | N | 0.446674632 | None | None | N |
| T/V | 0.0792 | likely_benign | 0.0804 | benign | -0.267 | Destabilizing | 0.016 | N | 0.293 | neutral | None | None | None | None | N |
| T/W | 0.4993 | ambiguous | 0.4757 | ambiguous | -0.91 | Destabilizing | 0.864 | D | 0.401 | neutral | None | None | None | None | N |
| T/Y | 0.197 | likely_benign | 0.1918 | benign | -0.644 | Destabilizing | 0.356 | N | 0.397 | 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.