Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8707 | 26344;26345;26346 | chr2:178715067;178715066;178715065 | chr2:179579794;179579793;179579792 |
| N2AB | 8390 | 25393;25394;25395 | chr2:178715067;178715066;178715065 | chr2:179579794;179579793;179579792 |
| N2A | 7463 | 22612;22613;22614 | chr2:178715067;178715066;178715065 | chr2:179579794;179579793;179579792 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs773760649  |
0.006 | None | N | 0.199 | 0.023 | 0.0846915920261 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| A/V | rs773760649 |
0.006 | None | N | 0.199 | 0.023 | 0.0846915920261 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.77555E-04 |
| A/V | rs773760649 |
0.006 | None | N | 0.199 | 0.023 | 0.0846915920261 | gnomAD-4.0.0 | 4.95808E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08617E-06 | 0 | 3.20205E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3435 | ambiguous | 0.3787 | ambiguous | -0.778 | Destabilizing | 0.676 | D | 0.301 | neutral | None | None | None | None | N |
| A/D | 0.1353 | likely_benign | 0.1757 | benign | -0.506 | Destabilizing | 0.029 | N | 0.344 | neutral | N | 0.454464346 | None | None | N |
| A/E | 0.1567 | likely_benign | 0.1925 | benign | -0.638 | Destabilizing | 0.072 | N | 0.319 | neutral | None | None | None | None | N |
| A/F | 0.1648 | likely_benign | 0.1828 | benign | -0.817 | Destabilizing | 0.214 | N | 0.387 | neutral | None | None | None | None | N |
| A/G | 0.0987 | likely_benign | 0.1025 | benign | -0.325 | Destabilizing | 0.012 | N | 0.228 | neutral | N | 0.511851113 | None | None | N |
| A/H | 0.2494 | likely_benign | 0.2719 | benign | -0.318 | Destabilizing | 0.214 | N | 0.354 | neutral | None | None | None | None | N |
| A/I | 0.1092 | likely_benign | 0.1135 | benign | -0.264 | Destabilizing | None | N | 0.205 | neutral | None | None | None | None | N |
| A/K | 0.2269 | likely_benign | 0.2738 | benign | -0.663 | Destabilizing | 0.001 | N | 0.225 | neutral | None | None | None | None | N |
| A/L | 0.0941 | likely_benign | 0.0946 | benign | -0.264 | Destabilizing | 0.006 | N | 0.314 | neutral | None | None | None | None | N |
| A/M | 0.1121 | likely_benign | 0.1113 | benign | -0.445 | Destabilizing | 0.214 | N | 0.321 | neutral | None | None | None | None | N |
| A/N | 0.118 | likely_benign | 0.1159 | benign | -0.345 | Destabilizing | None | N | 0.204 | neutral | None | None | None | None | N |
| A/P | 0.1034 | likely_benign | 0.1047 | benign | -0.229 | Destabilizing | None | N | 0.206 | neutral | N | 0.466750755 | None | None | N |
| A/Q | 0.2082 | likely_benign | 0.2261 | benign | -0.582 | Destabilizing | 0.214 | N | 0.382 | neutral | None | None | None | None | N |
| A/R | 0.2179 | likely_benign | 0.27 | benign | -0.218 | Destabilizing | 0.038 | N | 0.362 | neutral | None | None | None | None | N |
| A/S | 0.0739 | likely_benign | 0.0736 | benign | -0.552 | Destabilizing | 0.002 | N | 0.197 | neutral | N | 0.43358233 | None | None | N |
| A/T | 0.0644 | likely_benign | 0.0627 | benign | -0.597 | Destabilizing | None | N | 0.117 | neutral | N | 0.459710139 | None | None | N |
| A/V | 0.0771 | likely_benign | 0.0735 | benign | -0.229 | Destabilizing | None | N | 0.199 | neutral | N | 0.452013376 | None | None | N |
| A/W | 0.4343 | ambiguous | 0.4936 | ambiguous | -0.976 | Destabilizing | 0.864 | D | 0.41 | neutral | None | None | None | None | N |
| A/Y | 0.2369 | likely_benign | 0.2687 | benign | -0.624 | Destabilizing | 0.356 | N | 0.389 | 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.