Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30030 | 90313;90314;90315 | chr2:178552812;178552811;178552810 | chr2:179417539;179417538;179417537 |
| N2AB | 28389 | 85390;85391;85392 | chr2:178552812;178552811;178552810 | chr2:179417539;179417538;179417537 |
| N2A | 27462 | 82609;82610;82611 | chr2:178552812;178552811;178552810 | chr2:179417539;179417538;179417537 |
| N2B | 20965 | 63118;63119;63120 | chr2:178552812;178552811;178552810 | chr2:179417539;179417538;179417537 |
| Novex-1 | 21090 | 63493;63494;63495 | chr2:178552812;178552811;178552810 | chr2:179417539;179417538;179417537 |
| Novex-2 | 21157 | 63694;63695;63696 | chr2:178552812;178552811;178552810 | chr2:179417539;179417538;179417537 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1167897212  |
-0.34 | 0.006 | N | 0.158 | 0.123 | 0.354183961838 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| V/I | rs1167897212 |
-0.34 | 0.006 | N | 0.158 | 0.123 | 0.354183961838 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.192 | likely_benign | 0.1712 | benign | -0.777 | Destabilizing | 0.435 | N | 0.319 | neutral | N | 0.480112415 | None | None | I |
| V/C | 0.7655 | likely_pathogenic | 0.7456 | pathogenic | -0.721 | Destabilizing | 0.995 | D | 0.306 | neutral | None | None | None | None | I |
| V/D | 0.5214 | ambiguous | 0.4564 | ambiguous | -0.378 | Destabilizing | 0.946 | D | 0.474 | neutral | None | None | None | None | I |
| V/E | 0.3233 | likely_benign | 0.2908 | benign | -0.488 | Destabilizing | 0.93 | D | 0.431 | neutral | N | 0.464327666 | None | None | I |
| V/F | 0.2449 | likely_benign | 0.2275 | benign | -0.973 | Destabilizing | 0.897 | D | 0.415 | neutral | None | None | None | None | I |
| V/G | 0.3074 | likely_benign | 0.2669 | benign | -0.925 | Destabilizing | 0.791 | D | 0.453 | neutral | N | 0.487547255 | None | None | I |
| V/H | 0.6713 | likely_pathogenic | 0.6376 | pathogenic | -0.439 | Destabilizing | 0.995 | D | 0.421 | neutral | None | None | None | None | I |
| V/I | 0.0802 | likely_benign | 0.0776 | benign | -0.531 | Destabilizing | 0.006 | N | 0.158 | neutral | N | 0.52153775 | None | None | I |
| V/K | 0.2829 | likely_benign | 0.2705 | benign | -0.472 | Destabilizing | 0.946 | D | 0.423 | neutral | None | None | None | None | I |
| V/L | 0.2499 | likely_benign | 0.2278 | benign | -0.531 | Destabilizing | 0.144 | N | 0.281 | neutral | N | 0.466654616 | None | None | I |
| V/M | 0.1592 | likely_benign | 0.1447 | benign | -0.384 | Destabilizing | 0.182 | N | 0.28 | neutral | None | None | None | None | I |
| V/N | 0.351 | ambiguous | 0.3052 | benign | -0.223 | Destabilizing | 0.946 | D | 0.475 | neutral | None | None | None | None | I |
| V/P | 0.3028 | likely_benign | 0.2964 | benign | -0.578 | Destabilizing | 0.982 | D | 0.402 | neutral | None | None | None | None | I |
| V/Q | 0.3265 | likely_benign | 0.3081 | benign | -0.522 | Destabilizing | 0.946 | D | 0.465 | neutral | None | None | None | None | I |
| V/R | 0.2897 | likely_benign | 0.2802 | benign | 0.073 | Stabilizing | 0.946 | D | 0.512 | neutral | None | None | None | None | I |
| V/S | 0.2822 | likely_benign | 0.2458 | benign | -0.656 | Destabilizing | 0.553 | D | 0.357 | neutral | None | None | None | None | I |
| V/T | 0.1982 | likely_benign | 0.1752 | benign | -0.667 | Destabilizing | 0.014 | N | 0.059 | neutral | None | None | None | None | I |
| V/W | 0.8819 | likely_pathogenic | 0.8618 | pathogenic | -0.996 | Destabilizing | 0.995 | D | 0.531 | neutral | None | None | None | None | I |
| V/Y | 0.6102 | likely_pathogenic | 0.5817 | pathogenic | -0.697 | Destabilizing | 0.982 | D | 0.415 | neutral | None | None | None | None | I |
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.