Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30150 | 90673;90674;90675 | chr2:178552452;178552451;178552450 | chr2:179417179;179417178;179417177 |
| N2AB | 28509 | 85750;85751;85752 | chr2:178552452;178552451;178552450 | chr2:179417179;179417178;179417177 |
| N2A | 27582 | 82969;82970;82971 | chr2:178552452;178552451;178552450 | chr2:179417179;179417178;179417177 |
| N2B | 21085 | 63478;63479;63480 | chr2:178552452;178552451;178552450 | chr2:179417179;179417178;179417177 |
| Novex-1 | 21210 | 63853;63854;63855 | chr2:178552452;178552451;178552450 | chr2:179417179;179417178;179417177 |
| Novex-2 | 21277 | 64054;64055;64056 | chr2:178552452;178552451;178552450 | chr2:179417179;179417178;179417177 |
| 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/P | None | None | 0.996 | N | 0.61 | 0.344 | 0.321951552304 | gnomAD-4.0.0 | 1.60908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.9032E-06 | 0 | 0 |
| H/Q | None | None | 0.988 | N | 0.551 | 0.302 | 0.206339911435 | gnomAD-4.0.0 | 6.87602E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04035E-07 | 0 | 0 |
| H/Y | rs1166895783  |
1.289 | 0.996 | N | 0.554 | 0.377 | 0.221019684889 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.31E-05 | None | 0 | 0 | 0 |
| H/Y | rs1166895783 |
1.289 | 0.996 | N | 0.554 | 0.377 | 0.221019684889 | gnomAD-4.0.0 | 1.60877E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44013E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.3909 | ambiguous | 0.3308 | benign | 0.135 | Stabilizing | 0.939 | D | 0.557 | neutral | None | None | None | None | N |
| H/C | 0.2455 | likely_benign | 0.2046 | benign | 0.579 | Stabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| H/D | 0.479 | ambiguous | 0.3539 | ambiguous | 0.102 | Stabilizing | 0.852 | D | 0.525 | neutral | N | 0.465019958 | None | None | N |
| H/E | 0.5363 | ambiguous | 0.4234 | ambiguous | 0.127 | Stabilizing | 0.939 | D | 0.549 | neutral | None | None | None | None | N |
| H/F | 0.3115 | likely_benign | 0.2912 | benign | 0.782 | Stabilizing | 0.997 | D | 0.605 | neutral | None | None | None | None | N |
| H/G | 0.5226 | ambiguous | 0.4603 | ambiguous | -0.148 | Destabilizing | 0.939 | D | 0.552 | neutral | None | None | None | None | N |
| H/I | 0.2934 | likely_benign | 0.2589 | benign | 0.856 | Stabilizing | 0.982 | D | 0.627 | neutral | None | None | None | None | N |
| H/K | 0.4206 | ambiguous | 0.3052 | benign | 0.116 | Stabilizing | 0.939 | D | 0.534 | neutral | None | None | None | None | N |
| H/L | 0.1427 | likely_benign | 0.1351 | benign | 0.856 | Stabilizing | 0.92 | D | 0.571 | neutral | N | 0.420266316 | None | None | N |
| H/M | 0.4713 | ambiguous | 0.4434 | ambiguous | 0.648 | Stabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| H/N | 0.1306 | likely_benign | 0.115 | benign | 0.159 | Stabilizing | 0.134 | N | 0.276 | neutral | N | 0.43487041 | None | None | N |
| H/P | 0.4787 | ambiguous | 0.4686 | ambiguous | 0.641 | Stabilizing | 0.996 | D | 0.61 | neutral | N | 0.499132532 | None | None | N |
| H/Q | 0.2467 | likely_benign | 0.2016 | benign | 0.254 | Stabilizing | 0.988 | D | 0.551 | neutral | N | 0.444201969 | None | None | N |
| H/R | 0.1791 | likely_benign | 0.1353 | benign | -0.394 | Destabilizing | 0.959 | D | 0.537 | neutral | N | 0.362623522 | None | None | N |
| H/S | 0.2908 | likely_benign | 0.2468 | benign | 0.174 | Stabilizing | 0.884 | D | 0.565 | neutral | None | None | None | None | N |
| H/T | 0.292 | likely_benign | 0.2505 | benign | 0.299 | Stabilizing | 0.17 | N | 0.443 | neutral | None | None | None | None | N |
| H/V | 0.2646 | likely_benign | 0.2317 | benign | 0.641 | Stabilizing | 0.982 | D | 0.584 | neutral | None | None | None | None | N |
| H/W | 0.5151 | ambiguous | 0.4673 | ambiguous | 0.815 | Stabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| H/Y | 0.1266 | likely_benign | 0.1156 | benign | 1.095 | Stabilizing | 0.996 | D | 0.554 | neutral | N | 0.461171576 | 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.