Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15495 | 46708;46709;46710 | chr2:178619834;178619833;178619832 | chr2:179484561;179484560;179484559 |
| N2AB | 13854 | 41785;41786;41787 | chr2:178619834;178619833;178619832 | chr2:179484561;179484560;179484559 |
| N2A | 12927 | 39004;39005;39006 | chr2:178619834;178619833;178619832 | chr2:179484561;179484560;179484559 |
| N2B | 6430 | 19513;19514;19515 | chr2:178619834;178619833;178619832 | chr2:179484561;179484560;179484559 |
| Novex-1 | 6555 | 19888;19889;19890 | chr2:178619834;178619833;178619832 | chr2:179484561;179484560;179484559 |
| Novex-2 | 6622 | 20089;20090;20091 | chr2:178619834;178619833;178619832 | chr2:179484561;179484560;179484559 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs376839162  |
-1.533 | 0.117 | N | 0.418 | 0.366 | 0.687600149419 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| A/D | rs376839162 |
-1.533 | 0.117 | N | 0.418 | 0.366 | 0.687600149419 | gnomAD-4.0.0 | 2.05469E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70027E-06 | 0 | 0 |
| A/T | rs537428006 |
-1.17 | None | N | 0.121 | 0.167 | 0.212008924253 | gnomAD-2.1.1 | 1.05152E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.52235E-04 | None | 0 | 0 | 0 |
| A/T | rs537428006 |
-1.17 | None | N | 0.121 | 0.167 | 0.212008924253 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.1425E-04 | 0 |
| A/T | rs537428006 |
-1.17 | None | N | 0.121 | 0.167 | 0.212008924253 | gnomAD-4.0.0 | 5.335E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64908E-04 | 8.48245E-07 | 8.6838E-04 | 8.01616E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3835 | ambiguous | 0.4004 | ambiguous | -0.919 | Destabilizing | 0.555 | D | 0.467 | neutral | None | None | None | None | N |
| A/D | 0.2849 | likely_benign | 0.254 | benign | -1.264 | Destabilizing | 0.117 | N | 0.418 | neutral | N | 0.512643954 | None | None | N |
| A/E | 0.2276 | likely_benign | 0.2012 | benign | -1.376 | Destabilizing | 0.149 | N | 0.43 | neutral | None | None | None | None | N |
| A/F | 0.3851 | ambiguous | 0.3323 | benign | -1.314 | Destabilizing | 0.555 | D | 0.467 | neutral | None | None | None | None | N |
| A/G | 0.1361 | likely_benign | 0.1298 | benign | -1.007 | Destabilizing | 0.027 | N | 0.439 | neutral | N | 0.424423376 | None | None | N |
| A/H | 0.3814 | ambiguous | 0.3629 | ambiguous | -1.094 | Destabilizing | 0.935 | D | 0.443 | neutral | None | None | None | None | N |
| A/I | 0.3373 | likely_benign | 0.2624 | benign | -0.621 | Destabilizing | 0.081 | N | 0.422 | neutral | None | None | None | None | N |
| A/K | 0.3068 | likely_benign | 0.2838 | benign | -1.127 | Destabilizing | 0.149 | N | 0.428 | neutral | None | None | None | None | N |
| A/L | 0.2179 | likely_benign | 0.1784 | benign | -0.621 | Destabilizing | 0.081 | N | 0.433 | neutral | None | None | None | None | N |
| A/M | 0.215 | likely_benign | 0.177 | benign | -0.39 | Destabilizing | 0.555 | D | 0.442 | neutral | None | None | None | None | N |
| A/N | 0.1922 | likely_benign | 0.1684 | benign | -0.794 | Destabilizing | 0.149 | N | 0.424 | neutral | None | None | None | None | N |
| A/P | 0.8637 | likely_pathogenic | 0.7888 | pathogenic | -0.662 | Destabilizing | 0.211 | N | 0.415 | neutral | N | 0.512159048 | None | None | N |
| A/Q | 0.2316 | likely_benign | 0.2241 | benign | -1.098 | Destabilizing | 0.555 | D | 0.421 | neutral | None | None | None | None | N |
| A/R | 0.2736 | likely_benign | 0.2589 | benign | -0.608 | Destabilizing | 0.38 | N | 0.411 | neutral | None | None | None | None | N |
| A/S | 0.0731 | likely_benign | 0.0694 | benign | -1.036 | Destabilizing | None | N | 0.11 | neutral | N | 0.36881856 | None | None | N |
| A/T | 0.0784 | likely_benign | 0.0634 | benign | -1.072 | Destabilizing | None | N | 0.121 | neutral | N | 0.473584351 | None | None | N |
| A/V | 0.1582 | likely_benign | 0.1306 | benign | -0.662 | Destabilizing | 0.062 | N | 0.439 | neutral | N | 0.51208329 | None | None | N |
| A/W | 0.7355 | likely_pathogenic | 0.705 | pathogenic | -1.508 | Destabilizing | 0.935 | D | 0.509 | neutral | None | None | None | None | N |
| A/Y | 0.4892 | ambiguous | 0.4536 | ambiguous | -1.158 | Destabilizing | 0.555 | D | 0.467 | 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.