Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30293 | 91102;91103;91104 | chr2:178552023;178552022;178552021 | chr2:179416750;179416749;179416748 |
| N2AB | 28652 | 86179;86180;86181 | chr2:178552023;178552022;178552021 | chr2:179416750;179416749;179416748 |
| N2A | 27725 | 83398;83399;83400 | chr2:178552023;178552022;178552021 | chr2:179416750;179416749;179416748 |
| N2B | 21228 | 63907;63908;63909 | chr2:178552023;178552022;178552021 | chr2:179416750;179416749;179416748 |
| Novex-1 | 21353 | 64282;64283;64284 | chr2:178552023;178552022;178552021 | chr2:179416750;179416749;179416748 |
| Novex-2 | 21420 | 64483;64484;64485 | chr2:178552023;178552022;178552021 | chr2:179416750;179416749;179416748 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs1299709858  |
-1.961 | None | N | 0.089 | 0.041 | 0.0716867268079 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs1299709858 |
-1.961 | None | N | 0.089 | 0.041 | 0.0716867268079 | gnomAD-4.0.0 | 6.84483E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52092E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1299709858 |
None | None | N | 0.095 | 0.051 | 0.0666544352282 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1299709858 |
None | None | N | 0.095 | 0.051 | 0.0666544352282 | gnomAD-4.0.0 | 2.47966E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54362E-06 | 0 | 1.60174E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2448 | likely_benign | 0.2379 | benign | -0.857 | Destabilizing | 0.555 | D | 0.557 | neutral | None | None | None | None | N |
| A/D | 0.413 | ambiguous | 0.3597 | ambiguous | -1.465 | Destabilizing | 0.062 | N | 0.55 | neutral | N | 0.478561261 | None | None | N |
| A/E | 0.2914 | likely_benign | 0.2656 | benign | -1.448 | Destabilizing | 0.081 | N | 0.515 | neutral | None | None | None | None | N |
| A/F | 0.325 | likely_benign | 0.2855 | benign | -0.988 | Destabilizing | 0.38 | N | 0.583 | neutral | None | None | None | None | N |
| A/G | 0.1451 | likely_benign | 0.1328 | benign | -1.306 | Destabilizing | 0.027 | N | 0.443 | neutral | N | 0.454278182 | None | None | N |
| A/H | 0.392 | ambiguous | 0.3727 | ambiguous | -1.516 | Destabilizing | 0.824 | D | 0.558 | neutral | None | None | None | None | N |
| A/I | 0.1822 | likely_benign | 0.1652 | benign | -0.292 | Destabilizing | 0.029 | N | 0.509 | neutral | None | None | None | None | N |
| A/K | 0.4133 | ambiguous | 0.3506 | ambiguous | -1.287 | Destabilizing | 0.081 | N | 0.524 | neutral | None | None | None | None | N |
| A/L | 0.1467 | likely_benign | 0.1372 | benign | -0.292 | Destabilizing | 0.035 | N | 0.506 | neutral | None | None | None | None | N |
| A/M | 0.1229 | likely_benign | 0.1224 | benign | -0.217 | Destabilizing | 0.38 | N | 0.565 | neutral | None | None | None | None | N |
| A/N | 0.219 | likely_benign | 0.2049 | benign | -1.094 | Destabilizing | 0.081 | N | 0.562 | neutral | None | None | None | None | N |
| A/P | 0.9559 | likely_pathogenic | 0.9428 | pathogenic | -0.486 | Destabilizing | 0.117 | N | 0.579 | neutral | N | 0.490424546 | None | None | N |
| A/Q | 0.2694 | likely_benign | 0.2572 | benign | -1.194 | Destabilizing | 0.38 | N | 0.597 | neutral | None | None | None | None | N |
| A/R | 0.3795 | ambiguous | 0.3188 | benign | -0.975 | Destabilizing | 0.38 | N | 0.599 | neutral | None | None | None | None | N |
| A/S | 0.0809 | likely_benign | 0.0774 | benign | -1.452 | Destabilizing | None | N | 0.089 | neutral | N | 0.406849594 | None | None | N |
| A/T | 0.0584 | likely_benign | 0.0607 | benign | -1.338 | Destabilizing | None | N | 0.095 | neutral | N | 0.376982473 | None | None | N |
| A/V | 0.0969 | likely_benign | 0.0939 | benign | -0.486 | Destabilizing | None | N | 0.129 | neutral | N | 0.426302146 | None | None | N |
| A/W | 0.7063 | likely_pathogenic | 0.6656 | pathogenic | -1.438 | Destabilizing | 0.935 | D | 0.582 | neutral | None | None | None | None | N |
| A/Y | 0.4235 | ambiguous | 0.3873 | ambiguous | -0.992 | Destabilizing | 0.555 | D | 0.601 | neutral | None | None | 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.