Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23848 | 71767;71768;71769 | chr2:178574590;178574589;178574588 | chr2:179439317;179439316;179439315 |
| N2AB | 22207 | 66844;66845;66846 | chr2:178574590;178574589;178574588 | chr2:179439317;179439316;179439315 |
| N2A | 21280 | 64063;64064;64065 | chr2:178574590;178574589;178574588 | chr2:179439317;179439316;179439315 |
| N2B | 14783 | 44572;44573;44574 | chr2:178574590;178574589;178574588 | chr2:179439317;179439316;179439315 |
| Novex-1 | 14908 | 44947;44948;44949 | chr2:178574590;178574589;178574588 | chr2:179439317;179439316;179439315 |
| Novex-2 | 14975 | 45148;45149;45150 | chr2:178574590;178574589;178574588 | chr2:179439317;179439316;179439315 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/N | rs1171521240  |
0.539 | None | N | 0.198 | 0.089 | 0.136095386433 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66058E-04 |
| H/N | rs1171521240 |
0.539 | None | N | 0.198 | 0.089 | 0.136095386433 | gnomAD-4.0.0 | 3.1839E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.83092E-04 | 0 | 0 | 0 |
| H/Q | rs1026649081 |
None | 0.324 | N | 0.56 | 0.074 | 0.154104182512 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | rs1026649081 |
None | 0.324 | N | 0.56 | 0.074 | 0.154104182512 | gnomAD-4.0.0 | 4.33879E-06 | None | None | None | None | I | None | 8.01025E-05 | 1.66722E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs775670102 |
-0.024 | 0.324 | N | 0.483 | 0.269 | 0.198526703765 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 1.66058E-04 |
| H/R | rs775670102 |
-0.024 | 0.324 | N | 0.483 | 0.269 | 0.198526703765 | gnomAD-4.0.0 | 3.18386E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 3.02535E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.2005 | likely_benign | 0.2398 | benign | 0.635 | Stabilizing | 0.388 | N | 0.529 | neutral | None | None | None | None | I |
| H/C | 0.175 | likely_benign | 0.1862 | benign | 1.045 | Stabilizing | 0.981 | D | 0.573 | neutral | None | None | None | None | I |
| H/D | 0.1654 | likely_benign | 0.1843 | benign | 0.233 | Stabilizing | 0.09 | N | 0.499 | neutral | N | 0.406001445 | None | None | I |
| H/E | 0.2254 | likely_benign | 0.2673 | benign | 0.243 | Stabilizing | 0.207 | N | 0.502 | neutral | None | None | None | None | I |
| H/F | 0.2751 | likely_benign | 0.3077 | benign | 1.118 | Stabilizing | 0.932 | D | 0.595 | neutral | None | None | None | None | I |
| H/G | 0.2325 | likely_benign | 0.2487 | benign | 0.374 | Stabilizing | 0.116 | N | 0.457 | neutral | None | None | None | None | I |
| H/I | 0.2961 | likely_benign | 0.3345 | benign | 1.283 | Stabilizing | 0.818 | D | 0.603 | neutral | None | None | None | None | I |
| H/K | 0.1915 | likely_benign | 0.2368 | benign | 0.689 | Stabilizing | 0.241 | N | 0.507 | neutral | None | None | None | None | I |
| H/L | 0.1112 | likely_benign | 0.1246 | benign | 1.283 | Stabilizing | 0.324 | N | 0.563 | neutral | N | 0.451581806 | None | None | I |
| H/M | 0.3256 | likely_benign | 0.3598 | ambiguous | 1.016 | Stabilizing | 0.981 | D | 0.569 | neutral | None | None | None | None | I |
| H/N | 0.0602 | likely_benign | 0.0695 | benign | 0.753 | Stabilizing | None | N | 0.198 | neutral | N | 0.403558573 | None | None | I |
| H/P | 0.1668 | likely_benign | 0.1959 | benign | 1.093 | Stabilizing | 0.773 | D | 0.604 | neutral | N | 0.467628694 | None | None | I |
| H/Q | 0.1344 | likely_benign | 0.1548 | benign | 0.808 | Stabilizing | 0.324 | N | 0.56 | neutral | N | 0.389031837 | None | None | I |
| H/R | 0.1177 | likely_benign | 0.1293 | benign | 0.105 | Stabilizing | 0.324 | N | 0.483 | neutral | N | 0.43649771 | None | None | I |
| H/S | 0.1492 | likely_benign | 0.1769 | benign | 0.848 | Stabilizing | 0.116 | N | 0.481 | neutral | None | None | None | None | I |
| H/T | 0.174 | likely_benign | 0.2154 | benign | 0.955 | Stabilizing | 0.388 | N | 0.547 | neutral | None | None | None | None | I |
| H/V | 0.2306 | likely_benign | 0.2647 | benign | 1.093 | Stabilizing | 0.818 | D | 0.59 | neutral | None | None | None | None | I |
| H/W | 0.4498 | ambiguous | 0.4415 | ambiguous | 1.025 | Stabilizing | 0.981 | D | 0.595 | neutral | None | None | None | None | I |
| H/Y | 0.1077 | likely_benign | 0.1143 | benign | 1.377 | Stabilizing | 0.747 | D | 0.532 | neutral | N | 0.462414875 | 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.