Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18342 | 55249;55250;55251 | chr2:178602378;178602377;178602376 | chr2:179467105;179467104;179467103 |
| N2AB | 16701 | 50326;50327;50328 | chr2:178602378;178602377;178602376 | chr2:179467105;179467104;179467103 |
| N2A | 15774 | 47545;47546;47547 | chr2:178602378;178602377;178602376 | chr2:179467105;179467104;179467103 |
| N2B | 9277 | 28054;28055;28056 | chr2:178602378;178602377;178602376 | chr2:179467105;179467104;179467103 |
| Novex-1 | 9402 | 28429;28430;28431 | chr2:178602378;178602377;178602376 | chr2:179467105;179467104;179467103 |
| Novex-2 | 9469 | 28630;28631;28632 | chr2:178602378;178602377;178602376 | chr2:179467105;179467104;179467103 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | 1.0 | N | 0.773 | 0.327 | 0.539970339866 | gnomAD-4.0.0 | 1.36917E-06 | None | None | None | None | N | None | 0 | 2.23904E-05 | None | 0 | 0 | None | 0 | 0 | 8.99816E-07 | 0 | 0 |
| L/I | rs1003576282  |
None | 0.999 | N | 0.515 | 0.249 | 0.515659482774 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/I | rs1003576282 |
None | 0.999 | N | 0.515 | 0.249 | 0.515659482774 | gnomAD-4.0.0 | 2.48038E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39189E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.157 | likely_benign | 0.1639 | benign | -0.612 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| L/C | 0.3288 | likely_benign | 0.3408 | ambiguous | -0.526 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| L/D | 0.3518 | ambiguous | 0.3774 | ambiguous | -0.415 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| L/E | 0.1944 | likely_benign | 0.2105 | benign | -0.511 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| L/F | 0.1251 | likely_benign | 0.1324 | benign | -0.652 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.397056675 | None | None | N |
| L/G | 0.1694 | likely_benign | 0.1793 | benign | -0.775 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| L/H | 0.1565 | likely_benign | 0.164 | benign | -0.074 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.411735339 | None | None | N |
| L/I | 0.1269 | likely_benign | 0.1292 | benign | -0.303 | Destabilizing | 0.999 | D | 0.515 | neutral | N | 0.475074741 | None | None | N |
| L/K | 0.1262 | likely_benign | 0.1285 | benign | -0.385 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| L/M | 0.0856 | likely_benign | 0.0814 | benign | -0.372 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| L/N | 0.1316 | likely_benign | 0.1379 | benign | -0.124 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| L/P | 0.3942 | ambiguous | 0.4315 | ambiguous | -0.373 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.45648898 | None | None | N |
| L/Q | 0.0905 | likely_benign | 0.0914 | benign | -0.378 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| L/R | 0.1341 | likely_benign | 0.1424 | benign | 0.207 | Stabilizing | 1.0 | D | 0.797 | deleterious | N | 0.436940428 | None | None | N |
| L/S | 0.1595 | likely_benign | 0.1623 | benign | -0.526 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| L/T | 0.1689 | likely_benign | 0.1664 | benign | -0.518 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| L/V | 0.1138 | likely_benign | 0.1162 | benign | -0.373 | Destabilizing | 0.999 | D | 0.578 | neutral | N | 0.474901383 | None | None | N |
| L/W | 0.1723 | likely_benign | 0.1782 | benign | -0.673 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| L/Y | 0.1994 | likely_benign | 0.2092 | benign | -0.424 | Destabilizing | 1.0 | D | 0.756 | deleterious | 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.