Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18452 | 55579;55580;55581 | chr2:178601736;178601735;178601734 | chr2:179466463;179466462;179466461 |
| N2AB | 16811 | 50656;50657;50658 | chr2:178601736;178601735;178601734 | chr2:179466463;179466462;179466461 |
| N2A | 15884 | 47875;47876;47877 | chr2:178601736;178601735;178601734 | chr2:179466463;179466462;179466461 |
| N2B | 9387 | 28384;28385;28386 | chr2:178601736;178601735;178601734 | chr2:179466463;179466462;179466461 |
| Novex-1 | 9512 | 28759;28760;28761 | chr2:178601736;178601735;178601734 | chr2:179466463;179466462;179466461 |
| Novex-2 | 9579 | 28960;28961;28962 | chr2:178601736;178601735;178601734 | chr2:179466463;179466462;179466461 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs567515550  |
-0.034 | 0.612 | N | 0.473 | 0.142 | None | gnomAD-2.1.1 | 1.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.7E-05 | 0 |
| S/C | rs567515550 |
-0.034 | 0.612 | N | 0.473 | 0.142 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.36E-05 | 0 | 0 |
| S/C | rs567515550 |
-0.034 | 0.612 | N | 0.473 | 0.142 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| S/C | rs567515550 |
-0.034 | 0.612 | N | 0.473 | 0.142 | None | gnomAD-4.0.0 | 1.42872E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.95149E-05 | 0 | 0 |
| S/F | None | None | 0.295 | N | 0.539 | 0.112 | 0.435479573448 | gnomAD-4.0.0 | 6.86021E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.004E-07 | 0 | 0 |
| S/P | rs372541479 |
-0.094 | 0.055 | N | 0.52 | 0.123 | None | gnomAD-2.1.1 | 9.05E-05 | None | None | None | None | N | None | 1.03717E-03 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs372541479 |
-0.094 | 0.055 | N | 0.52 | 0.123 | None | gnomAD-3.1.2 | 2.36876E-04 | None | None | None | None | N | None | 7.72723E-04 | 1.96773E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| S/P | rs372541479 |
-0.094 | 0.055 | N | 0.52 | 0.123 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/P | rs372541479 |
-0.094 | 0.055 | N | 0.52 | 0.123 | None | gnomAD-4.0.0 | 3.72736E-05 | None | None | None | None | N | None | 7.096E-04 | 5.04982E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.42116E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0736 | likely_benign | 0.0731 | benign | -0.686 | Destabilizing | None | N | 0.131 | neutral | N | 0.445108833 | None | None | N |
| S/C | 0.1065 | likely_benign | 0.0995 | benign | -0.418 | Destabilizing | 0.612 | D | 0.473 | neutral | N | 0.459747947 | None | None | N |
| S/D | 0.2442 | likely_benign | 0.2126 | benign | -0.158 | Destabilizing | 0.038 | N | 0.41 | neutral | None | None | None | None | N |
| S/E | 0.2645 | likely_benign | 0.2441 | benign | -0.148 | Destabilizing | None | N | 0.201 | neutral | None | None | None | None | N |
| S/F | 0.1539 | likely_benign | 0.1324 | benign | -0.745 | Destabilizing | 0.295 | N | 0.539 | neutral | N | 0.487072885 | None | None | N |
| S/G | 0.0714 | likely_benign | 0.0721 | benign | -0.959 | Destabilizing | None | N | 0.128 | neutral | None | None | None | None | N |
| S/H | 0.2308 | likely_benign | 0.2145 | benign | -1.353 | Destabilizing | 0.356 | N | 0.487 | neutral | None | None | None | None | N |
| S/I | 0.1202 | likely_benign | 0.1095 | benign | -0.064 | Destabilizing | 0.214 | N | 0.548 | neutral | None | None | None | None | N |
| S/K | 0.4457 | ambiguous | 0.4737 | ambiguous | -0.744 | Destabilizing | 0.038 | N | 0.4 | neutral | None | None | None | None | N |
| S/L | 0.0899 | likely_benign | 0.0871 | benign | -0.064 | Destabilizing | 0.038 | N | 0.479 | neutral | None | None | None | None | N |
| S/M | 0.1516 | likely_benign | 0.1346 | benign | 0.153 | Stabilizing | 0.356 | N | 0.482 | neutral | None | None | None | None | N |
| S/N | 0.0926 | likely_benign | 0.0835 | benign | -0.704 | Destabilizing | 0.072 | N | 0.423 | neutral | None | None | None | None | N |
| S/P | 0.2174 | likely_benign | 0.2206 | benign | -0.236 | Destabilizing | 0.055 | N | 0.52 | neutral | N | 0.459240967 | None | None | N |
| S/Q | 0.3013 | likely_benign | 0.3003 | benign | -0.794 | Destabilizing | 0.12 | N | 0.501 | neutral | None | None | None | None | N |
| S/R | 0.4171 | ambiguous | 0.4573 | ambiguous | -0.652 | Destabilizing | 0.072 | N | 0.522 | neutral | None | None | None | None | N |
| S/T | 0.0741 | likely_benign | 0.0697 | benign | -0.716 | Destabilizing | 0.001 | N | 0.195 | neutral | N | 0.467273616 | None | None | N |
| S/V | 0.1363 | likely_benign | 0.1294 | benign | -0.236 | Destabilizing | 0.038 | N | 0.478 | neutral | None | None | None | None | N |
| S/W | 0.2224 | likely_benign | 0.2152 | benign | -0.747 | Destabilizing | 0.864 | D | 0.581 | neutral | None | None | None | None | N |
| S/Y | 0.1622 | likely_benign | 0.1438 | benign | -0.488 | Destabilizing | 0.295 | N | 0.545 | neutral | N | 0.468487125 | 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.