Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35444 | 106555;106556;106557 | chr2:178530285;178530284;178530283 | chr2:179395012;179395011;179395010 |
| N2AB | 33803 | 101632;101633;101634 | chr2:178530285;178530284;178530283 | chr2:179395012;179395011;179395010 |
| N2A | 32876 | 98851;98852;98853 | chr2:178530285;178530284;178530283 | chr2:179395012;179395011;179395010 |
| N2B | 26379 | 79360;79361;79362 | chr2:178530285;178530284;178530283 | chr2:179395012;179395011;179395010 |
| Novex-1 | 26504 | 79735;79736;79737 | chr2:178530285;178530284;178530283 | chr2:179395012;179395011;179395010 |
| Novex-2 | 26571 | 79936;79937;79938 | chr2:178530285;178530284;178530283 | chr2:179395012;179395011;179395010 |
| 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 | rs1688516881  |
None | 0.002 | N | 0.149 | 0.134 | 0.209622950755 | gnomAD-4.0.0 | 1.36984E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0037E-07 | 0 | 1.65832E-05 |
| T/I | rs1452745293 |
0.142 | 0.863 | N | 0.522 | 0.329 | 0.464784125046 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/I | rs1452745293 |
0.142 | 0.863 | N | 0.522 | 0.329 | 0.464784125046 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1452745293 |
0.142 | 0.863 | N | 0.522 | 0.329 | 0.464784125046 | gnomAD-4.0.0 | 3.85081E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19891E-06 | 0 | 0 |
| T/P | None | None | 0.928 | N | 0.527 | 0.473 | 0.410204130746 | gnomAD-4.0.0 | 6.84922E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0037E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0928 | likely_benign | 0.0939 | benign | -0.47 | Destabilizing | 0.002 | N | 0.149 | neutral | N | 0.509566609 | None | None | N |
| T/C | 0.6251 | likely_pathogenic | 0.6085 | pathogenic | -0.316 | Destabilizing | 0.985 | D | 0.566 | neutral | None | None | None | None | N |
| T/D | 0.3646 | ambiguous | 0.3715 | ambiguous | 0.173 | Stabilizing | 0.705 | D | 0.508 | neutral | None | None | None | None | N |
| T/E | 0.2727 | likely_benign | 0.2729 | benign | 0.135 | Stabilizing | 0.705 | D | 0.525 | neutral | None | None | None | None | N |
| T/F | 0.2519 | likely_benign | 0.2412 | benign | -0.736 | Destabilizing | 0.944 | D | 0.609 | neutral | None | None | None | None | N |
| T/G | 0.2884 | likely_benign | 0.2907 | benign | -0.667 | Destabilizing | 0.544 | D | 0.538 | neutral | None | None | None | None | N |
| T/H | 0.3395 | likely_benign | 0.3334 | benign | -0.9 | Destabilizing | 0.995 | D | 0.613 | neutral | None | None | None | None | N |
| T/I | 0.1682 | likely_benign | 0.1666 | benign | -0.056 | Destabilizing | 0.863 | D | 0.522 | neutral | N | 0.510086684 | None | None | N |
| T/K | 0.1942 | likely_benign | 0.1891 | benign | -0.498 | Destabilizing | 0.705 | D | 0.531 | neutral | None | None | None | None | N |
| T/L | 0.1352 | likely_benign | 0.1347 | benign | -0.056 | Destabilizing | 0.544 | D | 0.505 | neutral | None | None | None | None | N |
| T/M | 0.1229 | likely_benign | 0.1251 | benign | 0.045 | Stabilizing | 0.995 | D | 0.571 | neutral | None | None | None | None | N |
| T/N | 0.1525 | likely_benign | 0.1518 | benign | -0.325 | Destabilizing | 0.643 | D | 0.499 | neutral | N | 0.509625324 | None | None | N |
| T/P | 0.2768 | likely_benign | 0.3361 | benign | -0.162 | Destabilizing | 0.928 | D | 0.527 | neutral | N | 0.5111181 | None | None | N |
| T/Q | 0.2564 | likely_benign | 0.2601 | benign | -0.489 | Destabilizing | 0.944 | D | 0.577 | neutral | None | None | None | None | N |
| T/R | 0.1567 | likely_benign | 0.157 | benign | -0.243 | Destabilizing | 0.944 | D | 0.554 | neutral | None | None | None | None | N |
| T/S | 0.1183 | likely_benign | 0.1144 | benign | -0.574 | Destabilizing | 0.066 | N | 0.207 | neutral | N | 0.453942613 | None | None | N |
| T/V | 0.1486 | likely_benign | 0.1456 | benign | -0.162 | Destabilizing | 0.544 | D | 0.471 | neutral | None | None | None | None | N |
| T/W | 0.6358 | likely_pathogenic | 0.6342 | pathogenic | -0.728 | Destabilizing | 0.995 | D | 0.686 | prob.neutral | None | None | None | None | N |
| T/Y | 0.36 | ambiguous | 0.3438 | ambiguous | -0.465 | Destabilizing | 0.981 | D | 0.619 | 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.