Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19431 | 58516;58517;58518 | chr2:178594102;178594101;178594100 | chr2:179458829;179458828;179458827 |
| N2AB | 17790 | 53593;53594;53595 | chr2:178594102;178594101;178594100 | chr2:179458829;179458828;179458827 |
| N2A | 16863 | 50812;50813;50814 | chr2:178594102;178594101;178594100 | chr2:179458829;179458828;179458827 |
| N2B | 10366 | 31321;31322;31323 | chr2:178594102;178594101;178594100 | chr2:179458829;179458828;179458827 |
| Novex-1 | 10491 | 31696;31697;31698 | chr2:178594102;178594101;178594100 | chr2:179458829;179458828;179458827 |
| Novex-2 | 10558 | 31897;31898;31899 | chr2:178594102;178594101;178594100 | chr2:179458829;179458828;179458827 |
| 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/H | rs1236754057  |
-0.252 | 0.97 | N | 0.323 | 0.299 | 0.239305524855 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| D/V | rs772172264 |
0.23 | 0.97 | N | 0.395 | 0.495 | 0.405012372841 | gnomAD-4.0.0 | 1.59201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
| D/Y | rs1236754057 |
None | 0.99 | N | 0.452 | 0.344 | 0.378674557249 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1236754057 |
None | 0.99 | N | 0.452 | 0.344 | 0.378674557249 | gnomAD-4.0.0 | 4.95884E-06 | None | None | None | None | N | None | 2.6708E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08635E-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 | 0.0983 | likely_benign | 0.0944 | benign | 0.005 | Stabilizing | 0.822 | D | 0.344 | neutral | N | 0.496767017 | None | None | N |
| D/C | 0.3921 | ambiguous | 0.398 | ambiguous | 0.077 | Stabilizing | 0.998 | D | 0.534 | neutral | None | None | None | None | N |
| D/E | 0.0823 | likely_benign | 0.0833 | benign | -0.068 | Destabilizing | 0.006 | N | 0.18 | neutral | N | 0.442489815 | None | None | N |
| D/F | 0.4321 | ambiguous | 0.433 | ambiguous | -0.19 | Destabilizing | 0.993 | D | 0.451 | neutral | None | None | None | None | N |
| D/G | 0.0932 | likely_benign | 0.0922 | benign | -0.099 | Destabilizing | 0.822 | D | 0.276 | neutral | N | 0.479237262 | None | None | N |
| D/H | 0.1727 | likely_benign | 0.166 | benign | 0.282 | Stabilizing | 0.97 | D | 0.323 | neutral | N | 0.462808912 | None | None | N |
| D/I | 0.2129 | likely_benign | 0.2093 | benign | 0.209 | Stabilizing | 0.978 | D | 0.443 | neutral | None | None | None | None | N |
| D/K | 0.1566 | likely_benign | 0.1468 | benign | 0.42 | Stabilizing | 0.019 | N | 0.223 | neutral | None | None | None | None | N |
| D/L | 0.2341 | likely_benign | 0.2348 | benign | 0.209 | Stabilizing | 0.956 | D | 0.395 | neutral | None | None | None | None | N |
| D/M | 0.387 | ambiguous | 0.3854 | ambiguous | 0.152 | Stabilizing | 0.998 | D | 0.461 | neutral | None | None | None | None | N |
| D/N | 0.0817 | likely_benign | 0.0833 | benign | 0.416 | Stabilizing | 0.822 | D | 0.348 | neutral | N | 0.471447285 | None | None | N |
| D/P | 0.3272 | likely_benign | 0.302 | benign | 0.16 | Stabilizing | 0.978 | D | 0.297 | neutral | None | None | None | None | N |
| D/Q | 0.1678 | likely_benign | 0.1631 | benign | 0.398 | Stabilizing | 0.754 | D | 0.293 | neutral | None | None | None | None | N |
| D/R | 0.2056 | likely_benign | 0.1863 | benign | 0.571 | Stabilizing | 0.915 | D | 0.363 | neutral | None | None | None | None | N |
| D/S | 0.0796 | likely_benign | 0.0803 | benign | 0.246 | Stabilizing | 0.86 | D | 0.3 | neutral | None | None | None | None | N |
| D/T | 0.1438 | likely_benign | 0.1408 | benign | 0.323 | Stabilizing | 0.86 | D | 0.302 | neutral | None | None | None | None | N |
| D/V | 0.145 | likely_benign | 0.1425 | benign | 0.16 | Stabilizing | 0.97 | D | 0.395 | neutral | N | 0.478457632 | None | None | N |
| D/W | 0.7323 | likely_pathogenic | 0.7139 | pathogenic | -0.181 | Destabilizing | 0.998 | D | 0.569 | neutral | None | None | None | None | N |
| D/Y | 0.1828 | likely_benign | 0.1822 | benign | 0.024 | Stabilizing | 0.99 | D | 0.452 | neutral | N | 0.477950652 | 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.