Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16070 | 48433;48434;48435 | chr2:178616583;178616582;178616581 | chr2:179481310;179481309;179481308 |
| N2AB | 14429 | 43510;43511;43512 | chr2:178616583;178616582;178616581 | chr2:179481310;179481309;179481308 |
| N2A | 13502 | 40729;40730;40731 | chr2:178616583;178616582;178616581 | chr2:179481310;179481309;179481308 |
| N2B | 7005 | 21238;21239;21240 | chr2:178616583;178616582;178616581 | chr2:179481310;179481309;179481308 |
| Novex-1 | 7130 | 21613;21614;21615 | chr2:178616583;178616582;178616581 | chr2:179481310;179481309;179481308 |
| Novex-2 | 7197 | 21814;21815;21816 | chr2:178616583;178616582;178616581 | chr2:179481310;179481309;179481308 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs2057384107  |
None | 0.27 | N | 0.241 | 0.164 | 0.316198179892 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/A | rs2057384107 |
None | 0.27 | N | 0.241 | 0.164 | 0.316198179892 | gnomAD-4.0.0 | 2.56708E-06 | None | None | None | None | N | None | 1.69566E-05 | 1.6982E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | None | None | 0.139 | N | 0.168 | 0.084 | 0.203808441222 | gnomAD-4.0.0 | 1.59418E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86361E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1701 | likely_benign | 0.2079 | benign | -0.376 | Destabilizing | 0.27 | N | 0.241 | neutral | N | 0.47872669 | None | None | N |
| D/C | 0.5069 | ambiguous | 0.6314 | pathogenic | 0.019 | Stabilizing | 0.995 | D | 0.289 | neutral | None | None | None | None | N |
| D/E | 0.1236 | likely_benign | 0.1606 | benign | -0.698 | Destabilizing | 0.139 | N | 0.168 | neutral | N | 0.466928349 | None | None | N |
| D/F | 0.4829 | ambiguous | 0.5418 | ambiguous | -0.524 | Destabilizing | 0.944 | D | 0.322 | neutral | None | None | None | None | N |
| D/G | 0.1468 | likely_benign | 0.1607 | benign | -0.631 | Destabilizing | 0.27 | N | 0.29 | neutral | N | 0.474513463 | None | None | N |
| D/H | 0.232 | likely_benign | 0.2975 | benign | -0.839 | Destabilizing | 0.006 | N | 0.161 | neutral | N | 0.468995837 | None | None | N |
| D/I | 0.3986 | ambiguous | 0.4675 | ambiguous | 0.262 | Stabilizing | 0.944 | D | 0.385 | neutral | None | None | None | None | N |
| D/K | 0.3233 | likely_benign | 0.408 | ambiguous | -0.193 | Destabilizing | 0.013 | N | 0.137 | neutral | None | None | None | None | N |
| D/L | 0.3428 | ambiguous | 0.4272 | ambiguous | 0.262 | Stabilizing | 0.704 | D | 0.301 | neutral | None | None | None | None | N |
| D/M | 0.4881 | ambiguous | 0.6023 | pathogenic | 0.681 | Stabilizing | 0.981 | D | 0.303 | neutral | None | None | None | None | N |
| D/N | 0.0768 | likely_benign | 0.0912 | benign | -0.378 | Destabilizing | 0.01 | N | 0.079 | neutral | N | 0.426330582 | None | None | N |
| D/P | 0.8863 | likely_pathogenic | 0.9224 | pathogenic | 0.074 | Stabilizing | 0.828 | D | 0.377 | neutral | None | None | None | None | N |
| D/Q | 0.2539 | likely_benign | 0.3537 | ambiguous | -0.331 | Destabilizing | 0.037 | N | 0.065 | neutral | None | None | None | None | N |
| D/R | 0.3838 | ambiguous | 0.4713 | ambiguous | -0.169 | Destabilizing | 0.543 | D | 0.271 | neutral | None | None | None | None | N |
| D/S | 0.106 | likely_benign | 0.1228 | benign | -0.543 | Destabilizing | 0.013 | N | 0.072 | neutral | None | None | None | None | N |
| D/T | 0.152 | likely_benign | 0.2022 | benign | -0.355 | Destabilizing | 0.329 | N | 0.246 | neutral | None | None | None | None | N |
| D/V | 0.2461 | likely_benign | 0.2879 | benign | 0.074 | Stabilizing | 0.642 | D | 0.376 | neutral | N | 0.467912077 | None | None | N |
| D/W | 0.8132 | likely_pathogenic | 0.8697 | pathogenic | -0.501 | Destabilizing | 0.995 | D | 0.322 | neutral | None | None | None | None | N |
| D/Y | 0.1827 | likely_benign | 0.1955 | benign | -0.333 | Destabilizing | 0.863 | D | 0.386 | neutral | N | 0.485157112 | 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.