Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14179 | 42760;42761;42762 | chr2:178633964;178633963;178633962 | chr2:179498691;179498690;179498689 |
| N2AB | 12538 | 37837;37838;37839 | chr2:178633964;178633963;178633962 | chr2:179498691;179498690;179498689 |
| N2A | 11611 | 35056;35057;35058 | chr2:178633964;178633963;178633962 | chr2:179498691;179498690;179498689 |
| N2B | 5114 | 15565;15566;15567 | chr2:178633964;178633963;178633962 | chr2:179498691;179498690;179498689 |
| Novex-1 | 5239 | 15940;15941;15942 | chr2:178633964;178633963;178633962 | chr2:179498691;179498690;179498689 |
| Novex-2 | 5306 | 16141;16142;16143 | chr2:178633964;178633963;178633962 | chr2:179498691;179498690;179498689 |
| 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/G | None | None | 0.012 | N | 0.313 | 0.085 | 0.0297737177859 | gnomAD-4.0.0 | 4.79045E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29738E-06 | 0 | 0 |
| A/T | rs780353399  |
-0.441 | None | N | 0.113 | 0.101 | 0.104622674875 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| A/T | rs780353399 |
-0.441 | None | N | 0.113 | 0.101 | 0.104622674875 | gnomAD-4.0.0 | 1.59201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85989E-06 | 0 | 0 |
| A/V | None | None | None | N | 0.109 | 0.081 | 0.0482279557977 | gnomAD-4.0.0 | 2.05305E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69888E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3506 | ambiguous | 0.3348 | benign | -0.698 | Destabilizing | 0.356 | N | 0.357 | neutral | None | None | None | None | N |
| A/D | 0.1463 | likely_benign | 0.1654 | benign | -0.464 | Destabilizing | 0.029 | N | 0.43 | neutral | N | 0.495398812 | None | None | N |
| A/E | 0.1107 | likely_benign | 0.1479 | benign | -0.557 | Destabilizing | 0.016 | N | 0.415 | neutral | None | None | None | None | N |
| A/F | 0.1842 | likely_benign | 0.1766 | benign | -0.84 | Destabilizing | 0.214 | N | 0.45 | neutral | None | None | None | None | N |
| A/G | 0.1243 | likely_benign | 0.1245 | benign | -0.669 | Destabilizing | 0.012 | N | 0.313 | neutral | N | 0.502008055 | None | None | N |
| A/H | 0.2483 | likely_benign | 0.2639 | benign | -0.665 | Destabilizing | 0.214 | N | 0.431 | neutral | None | None | None | None | N |
| A/I | 0.0932 | likely_benign | 0.0902 | benign | -0.289 | Destabilizing | 0.006 | N | 0.405 | neutral | None | None | None | None | N |
| A/K | 0.1386 | likely_benign | 0.1965 | benign | -0.838 | Destabilizing | None | N | 0.165 | neutral | None | None | None | None | N |
| A/L | 0.0989 | likely_benign | 0.1029 | benign | -0.289 | Destabilizing | 0.016 | N | 0.394 | neutral | None | None | None | None | N |
| A/M | 0.1015 | likely_benign | 0.1055 | benign | -0.355 | Destabilizing | 0.214 | N | 0.387 | neutral | None | None | None | None | N |
| A/N | 0.1132 | likely_benign | 0.0923 | benign | -0.521 | Destabilizing | None | N | 0.285 | neutral | None | None | None | None | N |
| A/P | 0.7062 | likely_pathogenic | 0.7539 | pathogenic | -0.326 | Destabilizing | 0.106 | N | 0.435 | neutral | N | 0.514399471 | None | None | N |
| A/Q | 0.1271 | likely_benign | 0.1616 | benign | -0.716 | Destabilizing | 0.072 | N | 0.44 | neutral | None | None | None | None | N |
| A/R | 0.1407 | likely_benign | 0.1944 | benign | -0.42 | Destabilizing | 0.038 | N | 0.4 | neutral | None | None | None | None | N |
| A/S | 0.0798 | likely_benign | 0.0728 | benign | -0.811 | Destabilizing | 0.012 | N | 0.287 | neutral | N | 0.467951887 | None | None | N |
| A/T | 0.0593 | likely_benign | 0.0567 | benign | -0.81 | Destabilizing | None | N | 0.113 | neutral | N | 0.443044416 | None | None | N |
| A/V | 0.0633 | likely_benign | 0.0629 | benign | -0.326 | Destabilizing | None | N | 0.109 | neutral | N | 0.407716875 | None | None | N |
| A/W | 0.5301 | ambiguous | 0.5992 | pathogenic | -1.07 | Destabilizing | 0.864 | D | 0.469 | neutral | None | None | None | None | N |
| A/Y | 0.2881 | likely_benign | 0.2971 | benign | -0.695 | Destabilizing | 0.356 | N | 0.445 | 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.