Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7833 | 23722;23723;23724 | chr2:178720145;178720144;178720143 | chr2:179584872;179584871;179584870 |
| N2AB | 7516 | 22771;22772;22773 | chr2:178720145;178720144;178720143 | chr2:179584872;179584871;179584870 |
| N2A | 6589 | 19990;19991;19992 | chr2:178720145;178720144;178720143 | chr2:179584872;179584871;179584870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs2154300464  |
None | 0.002 | N | 0.328 | 0.336 | 0.225215365344 | gnomAD-4.0.0 | 3.71797E-06 | None | None | None | None | N | None | 0 | 1.6665E-05 | None | 0 | 0 | None | 0 | 0 | 4.23824E-06 | 0 | 0 |
| G/R | rs779083208 |
-0.61 | 0.826 | D | 0.519 | 0.362 | 0.619976913611 | gnomAD-2.1.1 | 8.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.19265E-04 | 7.82E-06 | 0 |
| G/R | rs779083208 |
-0.61 | 0.826 | D | 0.519 | 0.362 | 0.619976913611 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 4.70898E-04 | 0 | 0 | 0 | 0 |
| G/R | rs779083208 |
-0.61 | 0.826 | D | 0.519 | 0.362 | 0.619976913611 | gnomAD-4.0.0 | 2.4169E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.78035E-04 | 0 | 8.47657E-07 | 0 | 1.60118E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2075 | likely_benign | 0.1743 | benign | -0.298 | Destabilizing | 0.106 | N | 0.437 | neutral | N | 0.514884444 | None | None | N |
| G/C | 0.4283 | ambiguous | 0.3907 | ambiguous | -0.92 | Destabilizing | 0.976 | D | 0.591 | neutral | D | 0.540839512 | None | None | N |
| G/D | 0.2234 | likely_benign | 0.2116 | benign | -0.582 | Destabilizing | 0.002 | N | 0.328 | neutral | N | 0.487417984 | None | None | N |
| G/E | 0.2022 | likely_benign | 0.1741 | benign | -0.724 | Destabilizing | 0.472 | N | 0.476 | neutral | None | None | None | None | N |
| G/F | 0.7064 | likely_pathogenic | 0.6377 | pathogenic | -0.895 | Destabilizing | 0.975 | D | 0.591 | neutral | None | None | None | None | N |
| G/H | 0.5316 | ambiguous | 0.5099 | ambiguous | -0.526 | Destabilizing | 0.98 | D | 0.539 | neutral | None | None | None | None | N |
| G/I | 0.4604 | ambiguous | 0.4069 | ambiguous | -0.362 | Destabilizing | 0.927 | D | 0.585 | neutral | None | None | None | None | N |
| G/K | 0.4798 | ambiguous | 0.4716 | ambiguous | -0.952 | Destabilizing | 0.863 | D | 0.486 | neutral | None | None | None | None | N |
| G/L | 0.5491 | ambiguous | 0.4702 | ambiguous | -0.362 | Destabilizing | 0.927 | D | 0.567 | neutral | None | None | None | None | N |
| G/M | 0.5733 | likely_pathogenic | 0.4964 | ambiguous | -0.513 | Destabilizing | 0.993 | D | 0.579 | neutral | None | None | None | None | N |
| G/N | 0.2878 | likely_benign | 0.2601 | benign | -0.629 | Destabilizing | 0.023 | N | 0.336 | neutral | None | None | None | None | N |
| G/P | 0.8812 | likely_pathogenic | 0.8518 | pathogenic | -0.307 | Destabilizing | 0.826 | D | 0.515 | neutral | None | None | None | None | N |
| G/Q | 0.3613 | ambiguous | 0.3344 | benign | -0.871 | Destabilizing | 0.863 | D | 0.52 | neutral | None | None | None | None | N |
| G/R | 0.3743 | ambiguous | 0.3738 | ambiguous | -0.51 | Destabilizing | 0.826 | D | 0.519 | neutral | D | 0.524464278 | None | None | N |
| G/S | 0.1412 | likely_benign | 0.1284 | benign | -0.786 | Destabilizing | 0.009 | N | 0.338 | neutral | N | 0.512820529 | None | None | N |
| G/T | 0.2385 | likely_benign | 0.2099 | benign | -0.853 | Destabilizing | 0.472 | N | 0.475 | neutral | None | None | None | None | N |
| G/V | 0.3226 | likely_benign | 0.278 | benign | -0.307 | Destabilizing | 0.906 | D | 0.565 | neutral | N | 0.507251122 | None | None | N |
| G/W | 0.4714 | ambiguous | 0.4298 | ambiguous | -1.088 | Destabilizing | 0.993 | D | 0.551 | neutral | None | None | None | None | N |
| G/Y | 0.5549 | ambiguous | 0.5 | ambiguous | -0.737 | Destabilizing | 0.975 | D | 0.592 | 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.