Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8349 | 25270;25271;25272 | chr2:178717961;178717960;178717959 | chr2:179582688;179582687;179582686 |
| N2AB | 8032 | 24319;24320;24321 | chr2:178717961;178717960;178717959 | chr2:179582688;179582687;179582686 |
| N2A | 7105 | 21538;21539;21540 | chr2:178717961;178717960;178717959 | chr2:179582688;179582687;179582686 |
| 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/G | rs397517513  |
-1.461 | 0.034 | N | 0.655 | 0.256 | 0.316198179892 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 0 |
| A/G | rs397517513 |
-1.461 | 0.034 | N | 0.655 | 0.256 | 0.316198179892 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/G | rs397517513 |
-1.461 | 0.034 | N | 0.655 | 0.256 | 0.316198179892 | gnomAD-4.0.0 | 3.597E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24185E-05 | 0 | 1.2818E-04 |
| A/P | rs1459194268 |
-0.171 | 0.718 | D | 0.753 | 0.315 | 0.460264052551 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| A/P | rs1459194268 |
-0.171 | 0.718 | D | 0.753 | 0.315 | 0.460264052551 | gnomAD-4.0.0 | 1.59459E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43377E-05 | 0 |
| A/V | rs397517513 |
None | 0.337 | N | 0.612 | 0.286 | 0.458734620958 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs397517513 |
None | 0.337 | N | 0.612 | 0.286 | 0.458734620958 | gnomAD-4.0.0 | 1.9714E-05 | None | None | None | None | N | None | 7.23938E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6274 | likely_pathogenic | 0.6114 | pathogenic | -1.387 | Destabilizing | 0.016 | N | 0.563 | neutral | None | None | None | None | N |
| A/D | 0.887 | likely_pathogenic | 0.9205 | pathogenic | -1.875 | Destabilizing | 0.56 | D | 0.758 | deleterious | D | 0.536102571 | None | None | N |
| A/E | 0.8968 | likely_pathogenic | 0.9228 | pathogenic | -1.825 | Destabilizing | 0.702 | D | 0.758 | deleterious | None | None | None | None | N |
| A/F | 0.872 | likely_pathogenic | 0.9104 | pathogenic | -1.152 | Destabilizing | 0.926 | D | 0.768 | deleterious | None | None | None | None | N |
| A/G | 0.2036 | likely_benign | 0.2452 | benign | -1.569 | Destabilizing | 0.034 | N | 0.655 | neutral | N | 0.499701906 | None | None | N |
| A/H | 0.9363 | likely_pathogenic | 0.9584 | pathogenic | -1.765 | Destabilizing | 0.99 | D | 0.698 | prob.neutral | None | None | None | None | N |
| A/I | 0.7227 | likely_pathogenic | 0.7927 | pathogenic | -0.359 | Destabilizing | 0.643 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/K | 0.9428 | likely_pathogenic | 0.9649 | pathogenic | -1.457 | Destabilizing | 0.643 | D | 0.755 | deleterious | None | None | None | None | N |
| A/L | 0.658 | likely_pathogenic | 0.7414 | pathogenic | -0.359 | Destabilizing | 0.011 | N | 0.457 | neutral | None | None | None | None | N |
| A/M | 0.6522 | likely_pathogenic | 0.7215 | pathogenic | -0.388 | Destabilizing | 0.245 | N | 0.467 | neutral | None | None | None | None | N |
| A/N | 0.8269 | likely_pathogenic | 0.8689 | pathogenic | -1.391 | Destabilizing | 0.165 | N | 0.755 | deleterious | None | None | None | None | N |
| A/P | 0.9658 | likely_pathogenic | 0.9833 | pathogenic | -0.602 | Destabilizing | 0.718 | D | 0.753 | deleterious | D | 0.547458876 | None | None | N |
| A/Q | 0.8834 | likely_pathogenic | 0.9116 | pathogenic | -1.451 | Destabilizing | 0.926 | D | 0.767 | deleterious | None | None | None | None | N |
| A/R | 0.8944 | likely_pathogenic | 0.933 | pathogenic | -1.208 | Destabilizing | 0.926 | D | 0.753 | deleterious | None | None | None | None | N |
| A/S | 0.1588 | likely_benign | 0.1492 | benign | -1.819 | Destabilizing | None | N | 0.425 | neutral | D | 0.534121124 | None | None | N |
| A/T | 0.1699 | likely_benign | 0.1662 | benign | -1.658 | Destabilizing | 0.006 | N | 0.427 | neutral | N | 0.492466502 | None | None | N |
| A/V | 0.3722 | ambiguous | 0.4372 | ambiguous | -0.602 | Destabilizing | 0.337 | N | 0.612 | neutral | N | 0.513300347 | None | None | N |
| A/W | 0.9821 | likely_pathogenic | 0.9872 | pathogenic | -1.617 | Destabilizing | 0.997 | D | 0.743 | deleterious | None | None | None | None | N |
| A/Y | 0.9347 | likely_pathogenic | 0.9535 | pathogenic | -1.176 | Destabilizing | 0.962 | D | 0.739 | prob.delet. | 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.