Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8654 | 26185;26186;26187 | chr2:178715226;178715225;178715224 | chr2:179579953;179579952;179579951 |
| N2AB | 8337 | 25234;25235;25236 | chr2:178715226;178715225;178715224 | chr2:179579953;179579952;179579951 |
| N2A | 7410 | 22453;22454;22455 | chr2:178715226;178715225;178715224 | chr2:179579953;179579952;179579951 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs547017929  |
0.213 | 0.889 | N | 0.662 | 0.189 | None | gnomAD-2.1.1 | 1.32847E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.04877E-03 | None | 0 | 0 | 1.66389E-04 |
| T/I | rs547017929 |
0.213 | 0.889 | N | 0.662 | 0.189 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.22665E-04 | 0 |
| T/I | rs547017929 |
0.213 | 0.889 | N | 0.662 | 0.189 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| T/I | rs547017929 |
0.213 | 0.889 | N | 0.662 | 0.189 | None | gnomAD-4.0.0 | 4.58689E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.47516E-04 | 9.60738E-05 |
| T/R | None | None | 0.076 | D | 0.357 | 0.289 | 0.473300991676 | gnomAD-4.0.0 | 6.84442E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99633E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0811 | likely_benign | 0.0813 | benign | -0.959 | Destabilizing | None | N | 0.156 | neutral | N | 0.42933217 | None | None | N |
| T/C | 0.3963 | ambiguous | 0.391 | ambiguous | -0.685 | Destabilizing | 0.984 | D | 0.58 | neutral | None | None | None | None | N |
| T/D | 0.6157 | likely_pathogenic | 0.6548 | pathogenic | -0.76 | Destabilizing | 0.393 | N | 0.555 | neutral | None | None | None | None | N |
| T/E | 0.5186 | ambiguous | 0.5529 | ambiguous | -0.609 | Destabilizing | 0.684 | D | 0.545 | neutral | None | None | None | None | N |
| T/F | 0.2615 | likely_benign | 0.2657 | benign | -0.588 | Destabilizing | 0.983 | D | 0.639 | neutral | None | None | None | None | N |
| T/G | 0.2662 | likely_benign | 0.2779 | benign | -1.362 | Destabilizing | 0.007 | N | 0.301 | neutral | None | None | None | None | N |
| T/H | 0.4031 | ambiguous | 0.4217 | ambiguous | -1.501 | Destabilizing | 0.956 | D | 0.597 | neutral | None | None | None | None | N |
| T/I | 0.1404 | likely_benign | 0.1343 | benign | 0.076 | Stabilizing | 0.889 | D | 0.662 | neutral | N | 0.444397623 | None | None | N |
| T/K | 0.3699 | ambiguous | 0.401 | ambiguous | -0.617 | Destabilizing | 0.533 | D | 0.501 | neutral | D | 0.527248293 | None | None | N |
| T/L | 0.1147 | likely_benign | 0.1111 | benign | 0.076 | Stabilizing | 0.602 | D | 0.503 | neutral | None | None | None | None | N |
| T/M | 0.0783 | likely_benign | 0.0813 | benign | 0.064 | Stabilizing | 0.956 | D | 0.595 | neutral | None | None | None | None | N |
| T/N | 0.19 | likely_benign | 0.2042 | benign | -1.056 | Destabilizing | 0.245 | N | 0.495 | neutral | None | None | None | None | N |
| T/P | 0.346 | ambiguous | 0.3459 | ambiguous | -0.235 | Destabilizing | 0.777 | D | 0.651 | neutral | N | 0.486719968 | None | None | N |
| T/Q | 0.3681 | ambiguous | 0.3937 | ambiguous | -0.904 | Destabilizing | 0.832 | D | 0.658 | neutral | None | None | None | None | N |
| T/R | 0.3035 | likely_benign | 0.3282 | benign | -0.742 | Destabilizing | 0.076 | N | 0.357 | neutral | D | 0.535963776 | None | None | N |
| T/S | 0.1406 | likely_benign | 0.1455 | benign | -1.344 | Destabilizing | 0.002 | N | 0.155 | neutral | N | 0.514511069 | None | None | N |
| T/V | 0.1142 | likely_benign | 0.1105 | benign | -0.235 | Destabilizing | 0.52 | D | 0.442 | neutral | None | None | None | None | N |
| T/W | 0.7128 | likely_pathogenic | 0.7273 | pathogenic | -0.654 | Destabilizing | 0.998 | D | 0.577 | neutral | None | None | None | None | N |
| T/Y | 0.3233 | likely_benign | 0.3251 | benign | -0.326 | Destabilizing | 0.994 | D | 0.626 | 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.