Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33018 | 99277;99278;99279 | chr2:178538777;178538776;178538775 | chr2:179403504;179403503;179403502 |
| N2AB | 31377 | 94354;94355;94356 | chr2:178538777;178538776;178538775 | chr2:179403504;179403503;179403502 |
| N2A | 30450 | 91573;91574;91575 | chr2:178538777;178538776;178538775 | chr2:179403504;179403503;179403502 |
| N2B | 23953 | 72082;72083;72084 | chr2:178538777;178538776;178538775 | chr2:179403504;179403503;179403502 |
| Novex-1 | 24078 | 72457;72458;72459 | chr2:178538777;178538776;178538775 | chr2:179403504;179403503;179403502 |
| Novex-2 | 24145 | 72658;72659;72660 | chr2:178538777;178538776;178538775 | chr2:179403504;179403503;179403502 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs1384790834  |
-0.989 | 0.005 | N | 0.171 | 0.17 | 0.158396225186 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/E | rs1384790834 |
-0.989 | 0.005 | N | 0.171 | 0.17 | 0.158396225186 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| Q/E | rs1384790834 |
-0.989 | 0.005 | N | 0.171 | 0.17 | 0.158396225186 | gnomAD-4.0.0 | 6.40668E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39336E-06 | 5.36164E-05 | 0 |
| Q/H | rs1347129449 |
-1.057 | 0.005 | N | 0.173 | 0.103 | 0.154104182512 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| Q/H | rs1347129449 |
-1.057 | 0.005 | N | 0.173 | 0.103 | 0.154104182512 | gnomAD-4.0.0 | 1.59155E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85874E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2214 | likely_benign | 0.2412 | benign | -0.745 | Destabilizing | 0.688 | D | 0.405 | neutral | None | None | None | None | N |
| Q/C | 0.447 | ambiguous | 0.5244 | ambiguous | -0.299 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| Q/D | 0.5192 | ambiguous | 0.5898 | pathogenic | -1.309 | Destabilizing | 0.525 | D | 0.384 | neutral | None | None | None | None | N |
| Q/E | 0.1024 | likely_benign | 0.1165 | benign | -1.086 | Destabilizing | 0.005 | N | 0.171 | neutral | N | 0.362328026 | None | None | N |
| Q/F | 0.5968 | likely_pathogenic | 0.6728 | pathogenic | -0.137 | Destabilizing | 0.974 | D | 0.596 | neutral | None | None | None | None | N |
| Q/G | 0.3123 | likely_benign | 0.3568 | ambiguous | -1.179 | Destabilizing | 0.842 | D | 0.504 | neutral | None | None | None | None | N |
| Q/H | 0.167 | likely_benign | 0.1954 | benign | -0.891 | Destabilizing | 0.005 | N | 0.173 | neutral | N | 0.411468767 | None | None | N |
| Q/I | 0.3537 | ambiguous | 0.4024 | ambiguous | 0.422 | Stabilizing | 0.974 | D | 0.601 | neutral | None | None | None | None | N |
| Q/K | 0.1073 | likely_benign | 0.1251 | benign | -0.591 | Destabilizing | 0.454 | N | 0.393 | neutral | N | 0.42110697 | None | None | N |
| Q/L | 0.1257 | likely_benign | 0.1489 | benign | 0.422 | Stabilizing | 0.801 | D | 0.489 | neutral | N | 0.468668844 | None | None | N |
| Q/M | 0.3446 | ambiguous | 0.3824 | ambiguous | 0.565 | Stabilizing | 0.991 | D | 0.499 | neutral | None | None | None | None | N |
| Q/N | 0.3052 | likely_benign | 0.3566 | ambiguous | -1.29 | Destabilizing | 0.842 | D | 0.382 | neutral | None | None | None | None | N |
| Q/P | 0.8368 | likely_pathogenic | 0.8844 | pathogenic | 0.061 | Stabilizing | 0.966 | D | 0.539 | neutral | N | 0.470839033 | None | None | N |
| Q/R | 0.1082 | likely_benign | 0.1235 | benign | -0.715 | Destabilizing | 0.801 | D | 0.39 | neutral | N | 0.407484312 | None | None | N |
| Q/S | 0.2361 | likely_benign | 0.2656 | benign | -1.455 | Destabilizing | 0.688 | D | 0.373 | neutral | None | None | None | None | N |
| Q/T | 0.2 | likely_benign | 0.22 | benign | -1.046 | Destabilizing | 0.842 | D | 0.441 | neutral | None | None | None | None | N |
| Q/V | 0.2466 | likely_benign | 0.2788 | benign | 0.061 | Stabilizing | 0.915 | D | 0.507 | neutral | None | None | None | None | N |
| Q/W | 0.5274 | ambiguous | 0.6396 | pathogenic | -0.189 | Destabilizing | 0.998 | D | 0.623 | neutral | None | None | None | None | N |
| Q/Y | 0.393 | ambiguous | 0.4774 | ambiguous | 0.152 | Stabilizing | 0.842 | D | 0.542 | 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.