Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17749 | 53470;53471;53472 | chr2:178607443;178607442;178607441 | chr2:179472170;179472169;179472168 |
| N2AB | 16108 | 48547;48548;48549 | chr2:178607443;178607442;178607441 | chr2:179472170;179472169;179472168 |
| N2A | 15181 | 45766;45767;45768 | chr2:178607443;178607442;178607441 | chr2:179472170;179472169;179472168 |
| N2B | 8684 | 26275;26276;26277 | chr2:178607443;178607442;178607441 | chr2:179472170;179472169;179472168 |
| Novex-1 | 8809 | 26650;26651;26652 | chr2:178607443;178607442;178607441 | chr2:179472170;179472169;179472168 |
| Novex-2 | 8876 | 26851;26852;26853 | chr2:178607443;178607442;178607441 | chr2:179472170;179472169;179472168 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs2055164382  |
None | 0.987 | N | 0.305 | 0.562 | 0.614967603648 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/C | rs2055164382 |
None | 0.987 | N | 0.305 | 0.562 | 0.614967603648 | gnomAD-4.0.0 | 6.57722E-06 | None | None | None | None | I | None | 2.41231E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1553686153 |
None | 0.003 | D | 0.218 | 0.144 | 0.186928172975 | gnomAD-4.0.0 | 6.84432E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15958E-05 | 0 |
| S/T | rs1553686153 |
None | 0.285 | N | 0.252 | 0.085 | 0.194818534648 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/T | rs1553686153 |
None | 0.285 | N | 0.252 | 0.085 | 0.194818534648 | gnomAD-4.0.0 | 4.33955E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93516E-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 | 0.0831 | likely_benign | 0.0801 | benign | -0.194 | Destabilizing | 0.007 | N | 0.127 | neutral | None | None | None | None | I |
| S/C | 0.1548 | likely_benign | 0.1524 | benign | -0.398 | Destabilizing | 0.987 | D | 0.305 | neutral | N | 0.51055235 | None | None | I |
| S/D | 0.2537 | likely_benign | 0.262 | benign | -0.204 | Destabilizing | 0.004 | N | 0.162 | neutral | None | None | None | None | I |
| S/E | 0.295 | likely_benign | 0.3192 | benign | -0.317 | Destabilizing | 0.004 | N | 0.167 | neutral | None | None | None | None | I |
| S/F | 0.3188 | likely_benign | 0.2675 | benign | -0.967 | Destabilizing | 0.818 | D | 0.307 | neutral | None | None | None | None | I |
| S/G | 0.0861 | likely_benign | 0.0889 | benign | -0.209 | Destabilizing | 0.166 | N | 0.276 | neutral | N | 0.508030601 | None | None | I |
| S/H | 0.3136 | likely_benign | 0.3219 | benign | -0.512 | Destabilizing | 0.901 | D | 0.297 | neutral | None | None | None | None | I |
| S/I | 0.1445 | likely_benign | 0.1405 | benign | -0.278 | Destabilizing | 0.003 | N | 0.298 | neutral | D | 0.522557336 | None | None | I |
| S/K | 0.4571 | ambiguous | 0.5205 | ambiguous | -0.432 | Destabilizing | 0.209 | N | 0.225 | neutral | None | None | None | None | I |
| S/L | 0.1333 | likely_benign | 0.1175 | benign | -0.278 | Destabilizing | 0.209 | N | 0.308 | neutral | None | None | None | None | I |
| S/M | 0.2419 | likely_benign | 0.2308 | benign | -0.202 | Destabilizing | 0.818 | D | 0.304 | neutral | None | None | None | None | I |
| S/N | 0.1055 | likely_benign | 0.1208 | benign | -0.172 | Destabilizing | 0.003 | N | 0.218 | neutral | D | 0.532272897 | None | None | I |
| S/P | 0.1216 | likely_benign | 0.1237 | benign | -0.229 | Destabilizing | 0.002 | N | 0.123 | neutral | None | None | None | None | I |
| S/Q | 0.3607 | ambiguous | 0.3891 | ambiguous | -0.41 | Destabilizing | 0.39 | N | 0.225 | neutral | None | None | None | None | I |
| S/R | 0.4289 | ambiguous | 0.4597 | ambiguous | -0.173 | Destabilizing | 0.491 | N | 0.309 | neutral | N | 0.519092956 | None | None | I |
| S/T | 0.0867 | likely_benign | 0.0828 | benign | -0.291 | Destabilizing | 0.285 | N | 0.252 | neutral | N | 0.500584553 | None | None | I |
| S/V | 0.1714 | likely_benign | 0.1626 | benign | -0.229 | Destabilizing | 0.209 | N | 0.307 | neutral | None | None | None | None | I |
| S/W | 0.4908 | ambiguous | 0.4358 | ambiguous | -1.063 | Destabilizing | 0.991 | D | 0.32 | neutral | None | None | None | None | I |
| S/Y | 0.2762 | likely_benign | 0.246 | benign | -0.752 | Destabilizing | 0.965 | D | 0.303 | neutral | None | None | None | None | I |
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.