Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31829 | 95710;95711;95712 | chr2:178545625;178545624;178545623 | chr2:179410352;179410351;179410350 |
| N2AB | 30188 | 90787;90788;90789 | chr2:178545625;178545624;178545623 | chr2:179410352;179410351;179410350 |
| N2A | 29261 | 88006;88007;88008 | chr2:178545625;178545624;178545623 | chr2:179410352;179410351;179410350 |
| N2B | 22764 | 68515;68516;68517 | chr2:178545625;178545624;178545623 | chr2:179410352;179410351;179410350 |
| Novex-1 | 22889 | 68890;68891;68892 | chr2:178545625;178545624;178545623 | chr2:179410352;179410351;179410350 |
| Novex-2 | 22956 | 69091;69092;69093 | chr2:178545625;178545624;178545623 | chr2:179410352;179410351;179410350 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/R | rs762048345  |
-0.502 | 0.017 | N | 0.457 | 0.084 | 0.17258766438 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/R | rs762048345 |
-0.502 | 0.017 | N | 0.457 | 0.084 | 0.17258766438 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs762048345 |
-0.502 | 0.017 | N | 0.457 | 0.084 | 0.17258766438 | gnomAD-4.0.0 | 6.40628E-06 | None | None | None | None | N | None | 0 | 8.474E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0599 | likely_benign | 0.0637 | benign | -0.713 | Destabilizing | None | N | 0.059 | neutral | N | 0.456241051 | None | None | N |
| T/C | 0.219 | likely_benign | 0.2387 | benign | -0.442 | Destabilizing | 0.497 | N | 0.454 | neutral | None | None | None | None | N |
| T/D | 0.207 | likely_benign | 0.2305 | benign | -0.113 | Destabilizing | 0.044 | N | 0.406 | neutral | None | None | None | None | N |
| T/E | 0.1372 | likely_benign | 0.1533 | benign | -0.114 | Destabilizing | 0.009 | N | 0.355 | neutral | None | None | None | None | N |
| T/F | 0.1729 | likely_benign | 0.1715 | benign | -0.785 | Destabilizing | None | N | 0.289 | neutral | None | None | None | None | N |
| T/G | 0.1143 | likely_benign | 0.1285 | benign | -0.969 | Destabilizing | 0.009 | N | 0.302 | neutral | None | None | None | None | N |
| T/H | 0.1592 | likely_benign | 0.1659 | benign | -1.215 | Destabilizing | 0.138 | N | 0.516 | neutral | None | None | None | None | N |
| T/I | 0.109 | likely_benign | 0.1124 | benign | -0.126 | Destabilizing | 0.007 | N | 0.296 | neutral | N | 0.487817653 | None | None | N |
| T/K | 0.1076 | likely_benign | 0.1056 | benign | -0.731 | Destabilizing | 0.007 | N | 0.351 | neutral | N | 0.429553095 | None | None | N |
| T/L | 0.0547 | likely_benign | 0.0553 | benign | -0.126 | Destabilizing | None | N | 0.111 | neutral | None | None | None | None | N |
| T/M | 0.0663 | likely_benign | 0.0649 | benign | 0.032 | Stabilizing | None | N | 0.145 | neutral | None | None | None | None | N |
| T/N | 0.0736 | likely_benign | 0.0788 | benign | -0.631 | Destabilizing | 0.044 | N | 0.301 | neutral | None | None | None | None | N |
| T/P | 0.1537 | likely_benign | 0.1726 | benign | -0.289 | Destabilizing | 0.065 | N | 0.49 | neutral | N | 0.479512767 | None | None | N |
| T/Q | 0.1111 | likely_benign | 0.1187 | benign | -0.749 | Destabilizing | None | N | 0.206 | neutral | None | None | None | None | N |
| T/R | 0.1035 | likely_benign | 0.0992 | benign | -0.508 | Destabilizing | 0.017 | N | 0.457 | neutral | N | 0.514249205 | None | None | N |
| T/S | 0.0773 | likely_benign | 0.0829 | benign | -0.889 | Destabilizing | None | N | 0.101 | neutral | N | 0.428051585 | None | None | N |
| T/V | 0.0852 | likely_benign | 0.0895 | benign | -0.289 | Destabilizing | 0.004 | N | 0.148 | neutral | None | None | None | None | N |
| T/W | 0.4166 | ambiguous | 0.4246 | ambiguous | -0.758 | Destabilizing | 0.788 | D | 0.503 | neutral | None | None | None | None | N |
| T/Y | 0.197 | likely_benign | 0.2058 | benign | -0.523 | Destabilizing | 0.022 | N | 0.587 | 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.