Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21779 | 65560;65561;65562 | chr2:178583847;178583846;178583845 | chr2:179448574;179448573;179448572 |
| N2AB | 20138 | 60637;60638;60639 | chr2:178583847;178583846;178583845 | chr2:179448574;179448573;179448572 |
| N2A | 19211 | 57856;57857;57858 | chr2:178583847;178583846;178583845 | chr2:179448574;179448573;179448572 |
| N2B | 12714 | 38365;38366;38367 | chr2:178583847;178583846;178583845 | chr2:179448574;179448573;179448572 |
| Novex-1 | 12839 | 38740;38741;38742 | chr2:178583847;178583846;178583845 | chr2:179448574;179448573;179448572 |
| Novex-2 | 12906 | 38941;38942;38943 | chr2:178583847;178583846;178583845 | chr2:179448574;179448573;179448572 |
| 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/V | rs758250372  |
-0.155 | 0.379 | N | 0.425 | 0.171 | 0.252681307341 | gnomAD-2.1.1 | 1.47E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.07E-05 | 2.43E-05 | 0 |
| A/V | rs758250372 |
-0.155 | 0.379 | N | 0.425 | 0.171 | 0.252681307341 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs758250372 |
-0.155 | 0.379 | N | 0.425 | 0.171 | 0.252681307341 | gnomAD-4.0.0 | 8.70395E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56922E-05 | 0 | 8.49403E-06 | 0 | 4.81881E-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 | 0.4526 | ambiguous | 0.3891 | ambiguous | -0.909 | Destabilizing | 0.992 | D | 0.509 | neutral | None | None | None | None | N |
| A/D | 0.2128 | likely_benign | 0.2085 | benign | -1.45 | Destabilizing | 0.549 | D | 0.535 | neutral | N | 0.421066898 | None | None | N |
| A/E | 0.1802 | likely_benign | 0.1747 | benign | -1.429 | Destabilizing | 0.617 | D | 0.476 | neutral | None | None | None | None | N |
| A/F | 0.4236 | ambiguous | 0.3693 | ambiguous | -0.918 | Destabilizing | 0.92 | D | 0.601 | neutral | None | None | None | None | N |
| A/G | 0.1263 | likely_benign | 0.1157 | benign | -1.214 | Destabilizing | 0.002 | N | 0.131 | neutral | N | 0.451621878 | None | None | N |
| A/H | 0.3736 | ambiguous | 0.3474 | ambiguous | -1.404 | Destabilizing | 0.972 | D | 0.593 | neutral | None | None | None | None | N |
| A/I | 0.3312 | likely_benign | 0.2693 | benign | -0.23 | Destabilizing | 0.85 | D | 0.591 | neutral | None | None | None | None | N |
| A/K | 0.3244 | likely_benign | 0.3092 | benign | -1.366 | Destabilizing | 0.617 | D | 0.485 | neutral | None | None | None | None | N |
| A/L | 0.191 | likely_benign | 0.164 | benign | -0.23 | Destabilizing | 0.447 | N | 0.483 | neutral | None | None | None | None | N |
| A/M | 0.2394 | likely_benign | 0.2031 | benign | -0.249 | Destabilizing | 0.972 | D | 0.541 | neutral | None | None | None | None | N |
| A/N | 0.1752 | likely_benign | 0.158 | benign | -1.205 | Destabilizing | 0.617 | D | 0.517 | neutral | None | None | None | None | N |
| A/P | 0.3432 | ambiguous | 0.2979 | benign | -0.416 | Destabilizing | 0.712 | D | 0.581 | neutral | N | 0.478827122 | None | None | N |
| A/Q | 0.2246 | likely_benign | 0.2135 | benign | -1.284 | Destabilizing | 0.85 | D | 0.603 | neutral | None | None | None | None | N |
| A/R | 0.3113 | likely_benign | 0.316 | benign | -1.044 | Destabilizing | 0.85 | D | 0.597 | neutral | None | None | None | None | N |
| A/S | 0.0762 | likely_benign | 0.0718 | benign | -1.527 | Destabilizing | 0.002 | N | 0.175 | neutral | N | 0.367520415 | None | None | N |
| A/T | 0.0782 | likely_benign | 0.0705 | benign | -1.403 | Destabilizing | 0.007 | N | 0.163 | neutral | N | 0.353764471 | None | None | N |
| A/V | 0.1593 | likely_benign | 0.1378 | benign | -0.416 | Destabilizing | 0.379 | N | 0.425 | neutral | N | 0.45144852 | None | None | N |
| A/W | 0.7425 | likely_pathogenic | 0.7085 | pathogenic | -1.362 | Destabilizing | 0.992 | D | 0.639 | neutral | None | None | None | None | N |
| A/Y | 0.4804 | ambiguous | 0.4313 | ambiguous | -0.908 | Destabilizing | 0.972 | D | 0.605 | 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.