Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2156 | 6691;6692;6693 | chr2:178775398;178775397;178775396 | chr2:179640125;179640124;179640123 |
| N2AB | 2156 | 6691;6692;6693 | chr2:178775398;178775397;178775396 | chr2:179640125;179640124;179640123 |
| N2A | 2156 | 6691;6692;6693 | chr2:178775398;178775397;178775396 | chr2:179640125;179640124;179640123 |
| N2B | 2110 | 6553;6554;6555 | chr2:178775398;178775397;178775396 | chr2:179640125;179640124;179640123 |
| Novex-1 | 2110 | 6553;6554;6555 | chr2:178775398;178775397;178775396 | chr2:179640125;179640124;179640123 |
| Novex-2 | 2110 | 6553;6554;6555 | chr2:178775398;178775397;178775396 | chr2:179640125;179640124;179640123 |
| Novex-3 | 2156 | 6691;6692;6693 | chr2:178775398;178775397;178775396 | chr2:179640125;179640124;179640123 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs751393901  |
-0.156 | 0.19 | N | 0.335 | 0.038 | 0.367612772649 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| I/L | rs751393901 |
-0.156 | 0.19 | N | 0.335 | 0.038 | 0.367612772649 | gnomAD-4.0.0 | 1.36819E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79859E-06 | 0 | 0 |
| I/T | None | None | 0.722 | N | 0.367 | 0.287 | 0.627921267029 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | rs751393901 |
-0.229 | 0.001 | N | 0.205 | 0.043 | 0.432604763906 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 2.31562E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs751393901 |
-0.229 | 0.001 | N | 0.205 | 0.043 | 0.432604763906 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs751393901 |
-0.229 | 0.001 | N | 0.205 | 0.043 | 0.432604763906 | gnomAD-4.0.0 | 6.19594E-06 | None | None | None | None | I | None | 0 | 1.5003E-04 | None | 0 | 0 | None | 0 | 0 | 8.4745E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.408 | ambiguous | 0.3236 | benign | -0.431 | Destabilizing | 0.415 | N | 0.372 | neutral | None | None | None | None | I |
| I/C | 0.9012 | likely_pathogenic | 0.8449 | pathogenic | -0.772 | Destabilizing | 0.989 | D | 0.429 | neutral | None | None | None | None | I |
| I/D | 0.8366 | likely_pathogenic | 0.7556 | pathogenic | -0.215 | Destabilizing | 0.987 | D | 0.512 | neutral | None | None | None | None | I |
| I/E | 0.7077 | likely_pathogenic | 0.6251 | pathogenic | -0.315 | Destabilizing | 0.961 | D | 0.485 | neutral | None | None | None | None | I |
| I/F | 0.3765 | ambiguous | 0.283 | benign | -0.658 | Destabilizing | 0.923 | D | 0.337 | neutral | None | None | None | None | I |
| I/G | 0.8131 | likely_pathogenic | 0.7149 | pathogenic | -0.516 | Destabilizing | 0.961 | D | 0.457 | neutral | None | None | None | None | I |
| I/H | 0.7636 | likely_pathogenic | 0.6597 | pathogenic | 0.051 | Stabilizing | 0.996 | D | 0.528 | neutral | None | None | None | None | I |
| I/K | 0.53 | ambiguous | 0.424 | ambiguous | -0.293 | Destabilizing | 0.949 | D | 0.492 | neutral | N | 0.464811532 | None | None | I |
| I/L | 0.2037 | likely_benign | 0.1719 | benign | -0.332 | Destabilizing | 0.19 | N | 0.335 | neutral | N | 0.488474502 | None | None | I |
| I/M | 0.1771 | likely_benign | 0.1433 | benign | -0.561 | Destabilizing | 0.901 | D | 0.365 | neutral | N | 0.504773498 | None | None | I |
| I/N | 0.5341 | ambiguous | 0.4259 | ambiguous | -0.15 | Destabilizing | 0.987 | D | 0.519 | neutral | None | None | None | None | I |
| I/P | 0.7458 | likely_pathogenic | 0.6697 | pathogenic | -0.337 | Destabilizing | 0.987 | D | 0.509 | neutral | None | None | None | None | I |
| I/Q | 0.6509 | likely_pathogenic | 0.5589 | ambiguous | -0.334 | Destabilizing | 0.987 | D | 0.518 | neutral | None | None | None | None | I |
| I/R | 0.4711 | ambiguous | 0.3585 | ambiguous | 0.156 | Stabilizing | 0.949 | D | 0.517 | neutral | N | 0.461261327 | None | None | I |
| I/S | 0.4745 | ambiguous | 0.3692 | ambiguous | -0.523 | Destabilizing | 0.923 | D | 0.417 | neutral | None | None | None | None | I |
| I/T | 0.3062 | likely_benign | 0.223 | benign | -0.523 | Destabilizing | 0.722 | D | 0.367 | neutral | N | 0.45320544 | None | None | I |
| I/V | 0.0938 | likely_benign | 0.0821 | benign | -0.337 | Destabilizing | 0.001 | N | 0.205 | neutral | N | 0.459304165 | None | None | I |
| I/W | 0.9251 | likely_pathogenic | 0.8782 | pathogenic | -0.68 | Destabilizing | 0.996 | D | 0.619 | neutral | None | None | None | None | I |
| I/Y | 0.7626 | likely_pathogenic | 0.6699 | pathogenic | -0.438 | Destabilizing | 0.961 | D | 0.401 | 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.