Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5904 | 17935;17936;17937 | chr2:178730955;178730954;178730953 | chr2:179595682;179595681;179595680 |
| N2AB | 5587 | 16984;16985;16986 | chr2:178730955;178730954;178730953 | chr2:179595682;179595681;179595680 |
| N2A | 4660 | 14203;14204;14205 | chr2:178730955;178730954;178730953 | chr2:179595682;179595681;179595680 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs749341609  |
-0.887 | 0.135 | N | 0.229 | 0.183 | 0.198526703765 | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | I | None | 1.2409E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.41403E-04 |
| S/G | rs749341609 |
-0.887 | 0.135 | N | 0.229 | 0.183 | 0.198526703765 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 1.20785E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs749341609 |
-0.887 | 0.135 | N | 0.229 | 0.183 | 0.198526703765 | gnomAD-4.0.0 | 4.9688E-06 | None | None | None | None | I | None | 9.36605E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60442E-05 |
| S/N | rs1234235732 |
None | 0.4 | D | 0.347 | 0.196 | 0.199424873507 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1234235732 |
None | 0.4 | D | 0.347 | 0.196 | 0.199424873507 | gnomAD-4.0.0 | 6.57687E-06 | None | None | None | None | I | None | 0 | 6.55136E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | None | None | 0.997 | N | 0.648 | 0.391 | 0.418718287753 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/T | None | None | 0.98 | N | 0.559 | 0.246 | 0.268211541103 | gnomAD-4.0.0 | 1.60137E-06 | None | None | None | None | I | None | 5.69801E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1047 | likely_benign | 0.11 | benign | -0.642 | Destabilizing | 0.964 | D | 0.525 | neutral | None | None | None | None | I |
| S/C | 0.189 | likely_benign | 0.1945 | benign | -0.527 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.496772827 | None | None | I |
| S/D | 0.2855 | likely_benign | 0.2986 | benign | -0.171 | Destabilizing | 0.971 | D | 0.55 | neutral | None | None | None | None | I |
| S/E | 0.5901 | likely_pathogenic | 0.6387 | pathogenic | -0.192 | Destabilizing | 0.985 | D | 0.587 | neutral | None | None | None | None | I |
| S/F | 0.4037 | ambiguous | 0.4385 | ambiguous | -0.853 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | I |
| S/G | 0.1108 | likely_benign | 0.1261 | benign | -0.872 | Destabilizing | 0.135 | N | 0.229 | neutral | N | 0.485163032 | None | None | I |
| S/H | 0.4248 | ambiguous | 0.4559 | ambiguous | -1.354 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | I |
| S/I | 0.3082 | likely_benign | 0.3563 | ambiguous | -0.145 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | N | 0.512337555 | None | None | I |
| S/K | 0.7104 | likely_pathogenic | 0.7632 | pathogenic | -0.715 | Destabilizing | 0.985 | D | 0.589 | neutral | None | None | None | None | I |
| S/L | 0.2161 | likely_benign | 0.2336 | benign | -0.145 | Destabilizing | 0.998 | D | 0.661 | neutral | None | None | None | None | I |
| S/M | 0.3853 | ambiguous | 0.4105 | ambiguous | 0.066 | Stabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| S/N | 0.1477 | likely_benign | 0.1716 | benign | -0.62 | Destabilizing | 0.4 | N | 0.347 | neutral | D | 0.532827471 | None | None | I |
| S/P | 0.9618 | likely_pathogenic | 0.9659 | pathogenic | -0.277 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | I |
| S/Q | 0.5658 | likely_pathogenic | 0.5999 | pathogenic | -0.798 | Destabilizing | 0.998 | D | 0.577 | neutral | None | None | None | None | I |
| S/R | 0.6378 | likely_pathogenic | 0.6846 | pathogenic | -0.581 | Destabilizing | 0.997 | D | 0.648 | neutral | N | 0.503293998 | None | None | I |
| S/T | 0.1259 | likely_benign | 0.1402 | benign | -0.656 | Destabilizing | 0.98 | D | 0.559 | neutral | N | 0.505352868 | None | None | I |
| S/V | 0.3099 | likely_benign | 0.337 | benign | -0.277 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | I |
| S/W | 0.619 | likely_pathogenic | 0.6395 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| S/Y | 0.2999 | likely_benign | 0.3383 | benign | -0.558 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | 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.