Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2632 | 8119;8120;8121 | chr2:178771433;178771432;178771431 | chr2:179636160;179636159;179636158 |
| N2AB | 2632 | 8119;8120;8121 | chr2:178771433;178771432;178771431 | chr2:179636160;179636159;179636158 |
| N2A | 2632 | 8119;8120;8121 | chr2:178771433;178771432;178771431 | chr2:179636160;179636159;179636158 |
| N2B | 2586 | 7981;7982;7983 | chr2:178771433;178771432;178771431 | chr2:179636160;179636159;179636158 |
| Novex-1 | 2586 | 7981;7982;7983 | chr2:178771433;178771432;178771431 | chr2:179636160;179636159;179636158 |
| Novex-2 | 2586 | 7981;7982;7983 | chr2:178771433;178771432;178771431 | chr2:179636160;179636159;179636158 |
| Novex-3 | 2632 | 8119;8120;8121 | chr2:178771433;178771432;178771431 | chr2:179636160;179636159;179636158 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1210961482  |
-0.823 | 0.996 | N | 0.6 | 0.345 | 0.438278051908 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.63185E-04 |
| A/G | rs1210961482 |
-0.823 | 0.996 | N | 0.6 | 0.345 | 0.438278051908 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85771E-06 | 0 | 0 |
| A/T | None | None | 0.992 | N | 0.642 | 0.308 | 0.385084120042 | gnomAD-4.0.0 | 3.18202E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41429E-04 | 0 | 1.43279E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7977 | likely_pathogenic | 0.7917 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| A/D | 0.8669 | likely_pathogenic | 0.8318 | pathogenic | -1.535 | Destabilizing | 0.999 | D | 0.658 | neutral | D | 0.532285198 | None | None | N |
| A/E | 0.7471 | likely_pathogenic | 0.6916 | pathogenic | -1.624 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| A/F | 0.742 | likely_pathogenic | 0.7124 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/G | 0.3781 | ambiguous | 0.3767 | ambiguous | -1.16 | Destabilizing | 0.996 | D | 0.6 | neutral | N | 0.502838344 | None | None | N |
| A/H | 0.9119 | likely_pathogenic | 0.8904 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| A/I | 0.6198 | likely_pathogenic | 0.6091 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| A/K | 0.9096 | likely_pathogenic | 0.875 | pathogenic | -1.194 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| A/L | 0.3851 | ambiguous | 0.3745 | ambiguous | -0.692 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| A/M | 0.5589 | ambiguous | 0.5285 | ambiguous | -0.545 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| A/N | 0.8111 | likely_pathogenic | 0.7818 | pathogenic | -0.933 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| A/P | 0.4115 | ambiguous | 0.4076 | ambiguous | -0.755 | Destabilizing | 0.999 | D | 0.657 | neutral | N | 0.513248337 | None | None | N |
| A/Q | 0.7948 | likely_pathogenic | 0.7476 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| A/R | 0.8532 | likely_pathogenic | 0.8031 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| A/S | 0.1999 | likely_benign | 0.1969 | benign | -1.2 | Destabilizing | 0.957 | D | 0.361 | neutral | N | 0.504389505 | None | None | N |
| A/T | 0.2732 | likely_benign | 0.2602 | benign | -1.218 | Destabilizing | 0.992 | D | 0.642 | neutral | N | 0.508552876 | None | None | N |
| A/V | 0.3416 | ambiguous | 0.3265 | benign | -0.755 | Destabilizing | 0.998 | D | 0.681 | prob.neutral | N | 0.507787521 | None | None | N |
| A/W | 0.9581 | likely_pathogenic | 0.9421 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| A/Y | 0.8854 | likely_pathogenic | 0.8553 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.68 | prob.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.