Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2239 | 6940;6941;6942 | chr2:178774996;178774995;178774994 | chr2:179639723;179639722;179639721 |
| N2AB | 2239 | 6940;6941;6942 | chr2:178774996;178774995;178774994 | chr2:179639723;179639722;179639721 |
| N2A | 2239 | 6940;6941;6942 | chr2:178774996;178774995;178774994 | chr2:179639723;179639722;179639721 |
| N2B | 2193 | 6802;6803;6804 | chr2:178774996;178774995;178774994 | chr2:179639723;179639722;179639721 |
| Novex-1 | 2193 | 6802;6803;6804 | chr2:178774996;178774995;178774994 | chr2:179639723;179639722;179639721 |
| Novex-2 | 2193 | 6802;6803;6804 | chr2:178774996;178774995;178774994 | chr2:179639723;179639722;179639721 |
| Novex-3 | 2239 | 6940;6941;6942 | chr2:178774996;178774995;178774994 | chr2:179639723;179639722;179639721 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | None | None | None | N | 0.074 | 0.035 | 0.0297737177859 | gnomAD-4.0.0 | 1.59081E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85696E-06 | 0 | 0 |
| S/F | rs1486541995  |
-0.813 | 0.093 | N | 0.401 | 0.103 | 0.277730125212 | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.55E-05 | 0 |
| S/F | rs1486541995 |
-0.813 | 0.093 | N | 0.401 | 0.103 | 0.277730125212 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs1486541995 |
-0.813 | 0.093 | N | 0.401 | 0.103 | 0.277730125212 | gnomAD-4.0.0 | 3.71776E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08498E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0696 | likely_benign | 0.0643 | benign | -0.267 | Destabilizing | None | N | 0.074 | neutral | N | 0.348308836 | None | None | N |
| S/C | 0.1402 | likely_benign | 0.1237 | benign | -0.146 | Destabilizing | 0.612 | D | 0.311 | neutral | N | 0.419507419 | None | None | N |
| S/D | 0.185 | likely_benign | 0.164 | benign | -0.179 | Destabilizing | 0.072 | N | 0.163 | neutral | None | None | None | None | N |
| S/E | 0.2495 | likely_benign | 0.2268 | benign | -0.293 | Destabilizing | 0.016 | N | 0.206 | neutral | None | None | None | None | N |
| S/F | 0.1492 | likely_benign | 0.1362 | benign | -0.983 | Destabilizing | 0.093 | N | 0.401 | neutral | N | 0.361342993 | None | None | N |
| S/G | 0.0865 | likely_benign | 0.0757 | benign | -0.332 | Destabilizing | 0.016 | N | 0.212 | neutral | None | None | None | None | N |
| S/H | 0.1856 | likely_benign | 0.1712 | benign | -0.817 | Destabilizing | 0.356 | N | 0.318 | neutral | None | None | None | None | N |
| S/I | 0.134 | likely_benign | 0.1267 | benign | -0.227 | Destabilizing | 0.214 | N | 0.413 | neutral | None | None | None | None | N |
| S/K | 0.2609 | likely_benign | 0.2404 | benign | -0.409 | Destabilizing | 0.001 | N | 0.113 | neutral | None | None | None | None | N |
| S/L | 0.0904 | likely_benign | 0.0874 | benign | -0.227 | Destabilizing | 0.016 | N | 0.29 | neutral | None | None | None | None | N |
| S/M | 0.1521 | likely_benign | 0.1445 | benign | 0.109 | Stabilizing | 0.356 | N | 0.319 | neutral | None | None | None | None | N |
| S/N | 0.0949 | likely_benign | 0.0836 | benign | -0.101 | Destabilizing | 0.136 | N | 0.185 | neutral | None | None | None | None | N |
| S/P | 0.2547 | likely_benign | 0.2505 | benign | -0.215 | Destabilizing | 0.055 | N | 0.361 | neutral | N | 0.381899703 | None | None | N |
| S/Q | 0.2702 | likely_benign | 0.243 | benign | -0.413 | Destabilizing | 0.003 | N | 0.203 | neutral | None | None | None | None | N |
| S/R | 0.2337 | likely_benign | 0.2114 | benign | -0.127 | Destabilizing | None | N | 0.16 | neutral | None | None | None | None | N |
| S/T | 0.0766 | likely_benign | 0.0697 | benign | -0.201 | Destabilizing | 0.012 | N | 0.198 | neutral | N | 0.328762257 | None | None | N |
| S/V | 0.14 | likely_benign | 0.129 | benign | -0.215 | Destabilizing | 0.038 | N | 0.338 | neutral | None | None | None | None | N |
| S/W | 0.2601 | likely_benign | 0.2426 | benign | -1.023 | Destabilizing | 0.864 | D | 0.355 | neutral | None | None | None | None | N |
| S/Y | 0.156 | likely_benign | 0.1443 | benign | -0.73 | Destabilizing | 0.001 | N | 0.193 | neutral | N | 0.382171931 | 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.