Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26382 | 79369;79370;79371 | chr2:178566988;178566987;178566986 | chr2:179431715;179431714;179431713 |
| N2AB | 24741 | 74446;74447;74448 | chr2:178566988;178566987;178566986 | chr2:179431715;179431714;179431713 |
| N2A | 23814 | 71665;71666;71667 | chr2:178566988;178566987;178566986 | chr2:179431715;179431714;179431713 |
| N2B | 17317 | 52174;52175;52176 | chr2:178566988;178566987;178566986 | chr2:179431715;179431714;179431713 |
| Novex-1 | 17442 | 52549;52550;52551 | chr2:178566988;178566987;178566986 | chr2:179431715;179431714;179431713 |
| Novex-2 | 17509 | 52750;52751;52752 | chr2:178566988;178566987;178566986 | chr2:179431715;179431714;179431713 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs751896572  |
-0.048 | 0.955 | N | 0.563 | 0.253 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| N/D | rs751896572 |
-0.048 | 0.955 | N | 0.563 | 0.253 | None | gnomAD-4.0.0 | 2.73708E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59822E-06 | 0 | 0 |
| N/H | rs751896572 |
-0.763 | 0.987 | N | 0.549 | 0.277 | 0.218845423259 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| N/H | rs751896572 |
-0.763 | 0.987 | N | 0.549 | 0.277 | 0.218845423259 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/H | rs751896572 |
-0.763 | 0.987 | N | 0.549 | 0.277 | 0.218845423259 | gnomAD-4.0.0 | 4.33842E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93393E-06 | 0 | 0 |
| N/T | rs727505049 |
0.178 | 0.914 | N | 0.569 | 0.208 | 0.225215365344 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| N/T | rs727505049 |
0.178 | 0.914 | N | 0.569 | 0.208 | 0.225215365344 | gnomAD-4.0.0 | 5.47414E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19642E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.846 | likely_pathogenic | 0.8012 | pathogenic | -0.174 | Destabilizing | 0.933 | D | 0.477 | neutral | None | None | None | None | N |
| N/C | 0.8847 | likely_pathogenic | 0.8451 | pathogenic | 0.352 | Stabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| N/D | 0.2541 | likely_benign | 0.224 | benign | 0.138 | Stabilizing | 0.955 | D | 0.563 | neutral | N | 0.417909163 | None | None | N |
| N/E | 0.9006 | likely_pathogenic | 0.8774 | pathogenic | 0.08 | Stabilizing | 0.933 | D | 0.578 | neutral | None | None | None | None | N |
| N/F | 0.9247 | likely_pathogenic | 0.9031 | pathogenic | -0.7 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | N |
| N/G | 0.8749 | likely_pathogenic | 0.8414 | pathogenic | -0.297 | Destabilizing | 0.933 | D | 0.468 | neutral | None | None | None | None | N |
| N/H | 0.4619 | ambiguous | 0.3982 | ambiguous | -0.385 | Destabilizing | 0.987 | D | 0.549 | neutral | N | 0.519804166 | None | None | N |
| N/I | 0.7259 | likely_pathogenic | 0.6779 | pathogenic | 0.051 | Stabilizing | 0.987 | D | 0.757 | deleterious | N | 0.46781625 | None | None | N |
| N/K | 0.9141 | likely_pathogenic | 0.8942 | pathogenic | 0.189 | Stabilizing | 0.841 | D | 0.462 | neutral | N | 0.475578158 | None | None | N |
| N/L | 0.7439 | likely_pathogenic | 0.6854 | pathogenic | 0.051 | Stabilizing | 0.98 | D | 0.591 | neutral | None | None | None | None | N |
| N/M | 0.792 | likely_pathogenic | 0.7327 | pathogenic | 0.325 | Stabilizing | 0.999 | D | 0.662 | prob.neutral | None | None | None | None | N |
| N/P | 0.9052 | likely_pathogenic | 0.877 | pathogenic | None | Stabilizing | 0.997 | D | 0.635 | neutral | None | None | None | None | N |
| N/Q | 0.8838 | likely_pathogenic | 0.8563 | pathogenic | -0.226 | Destabilizing | 0.98 | D | 0.571 | neutral | None | None | None | None | N |
| N/R | 0.9521 | likely_pathogenic | 0.9391 | pathogenic | 0.231 | Stabilizing | 0.092 | N | 0.28 | neutral | None | None | None | None | N |
| N/S | 0.3237 | likely_benign | 0.2963 | benign | 0.023 | Stabilizing | 0.914 | D | 0.448 | neutral | N | 0.477474754 | None | None | N |
| N/T | 0.6144 | likely_pathogenic | 0.551 | ambiguous | 0.09 | Stabilizing | 0.914 | D | 0.569 | neutral | N | 0.467158973 | None | None | N |
| N/V | 0.784 | likely_pathogenic | 0.7416 | pathogenic | None | Stabilizing | 0.99 | D | 0.749 | deleterious | None | None | None | None | N |
| N/W | 0.979 | likely_pathogenic | 0.9706 | pathogenic | -0.77 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| N/Y | 0.5669 | likely_pathogenic | 0.4973 | ambiguous | -0.465 | Destabilizing | 0.996 | D | 0.653 | prob.neutral | N | 0.51945745 | 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.