Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14589 | 43990;43991;43992 | chr2:178631283;178631282;178631281 | chr2:179496010;179496009;179496008 |
| N2AB | 12948 | 39067;39068;39069 | chr2:178631283;178631282;178631281 | chr2:179496010;179496009;179496008 |
| N2A | 12021 | 36286;36287;36288 | chr2:178631283;178631282;178631281 | chr2:179496010;179496009;179496008 |
| N2B | 5524 | 16795;16796;16797 | chr2:178631283;178631282;178631281 | chr2:179496010;179496009;179496008 |
| Novex-1 | 5649 | 17170;17171;17172 | chr2:178631283;178631282;178631281 | chr2:179496010;179496009;179496008 |
| Novex-2 | 5716 | 17371;17372;17373 | chr2:178631283;178631282;178631281 | chr2:179496010;179496009;179496008 |
| 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/I | rs1171658402  |
-0.155 | 0.999 | N | 0.726 | 0.439 | 0.270889551736 | gnomAD-2.1.1 | 8.28E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.84E-05 | 0 |
| T/I | rs1171658402 |
-0.155 | 0.999 | N | 0.726 | 0.439 | 0.270889551736 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/I | rs1171658402 |
-0.155 | 0.999 | N | 0.726 | 0.439 | 0.270889551736 | gnomAD-4.0.0 | 6.21555E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48637E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1351 | likely_benign | 0.1323 | benign | -0.84 | Destabilizing | 0.767 | D | 0.23 | neutral | D | 0.533472884 | None | None | N |
| T/C | 0.6632 | likely_pathogenic | 0.6704 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| T/D | 0.6141 | likely_pathogenic | 0.636 | pathogenic | 0.306 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| T/E | 0.3804 | ambiguous | 0.3995 | ambiguous | 0.337 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/F | 0.408 | ambiguous | 0.4166 | ambiguous | -0.847 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| T/G | 0.5282 | ambiguous | 0.5335 | ambiguous | -1.113 | Destabilizing | 0.997 | D | 0.59 | neutral | None | None | None | None | N |
| T/H | 0.4011 | ambiguous | 0.4156 | ambiguous | -1.208 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| T/I | 0.182 | likely_benign | 0.1725 | benign | -0.2 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | N | 0.442752459 | None | None | N |
| T/K | 0.2424 | likely_benign | 0.2522 | benign | -0.451 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.486262267 | None | None | N |
| T/L | 0.1421 | likely_benign | 0.135 | benign | -0.2 | Destabilizing | 0.997 | D | 0.538 | neutral | None | None | None | None | N |
| T/M | 0.1216 | likely_benign | 0.1236 | benign | -0.084 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| T/N | 0.2746 | likely_benign | 0.2696 | benign | -0.481 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| T/P | 0.3053 | likely_benign | 0.3338 | benign | -0.381 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.593988739 | None | None | N |
| T/Q | 0.318 | likely_benign | 0.335 | benign | -0.549 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| T/R | 0.1679 | likely_benign | 0.179 | benign | -0.291 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | N | 0.487376221 | None | None | N |
| T/S | 0.2016 | likely_benign | 0.1985 | benign | -0.862 | Destabilizing | 0.992 | D | 0.365 | neutral | N | 0.44465816 | None | None | N |
| T/V | 0.1919 | likely_benign | 0.1729 | benign | -0.381 | Destabilizing | 0.997 | D | 0.443 | neutral | None | None | None | None | N |
| T/W | 0.7242 | likely_pathogenic | 0.7542 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| T/Y | 0.481 | ambiguous | 0.5002 | ambiguous | -0.528 | Destabilizing | 1.0 | D | 0.753 | 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.