Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7695 | 23308;23309;23310 | chr2:178720936;178720935;178720934 | chr2:179585663;179585662;179585661 |
| N2AB | 7378 | 22357;22358;22359 | chr2:178720936;178720935;178720934 | chr2:179585663;179585662;179585661 |
| N2A | 6451 | 19576;19577;19578 | chr2:178720936;178720935;178720934 | chr2:179585663;179585662;179585661 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs201003628  |
None | 0.017 | N | 0.21 | 0.25 | 0.475741759771 | 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/E | rs201003628 |
None | 0.017 | N | 0.21 | 0.25 | 0.475741759771 | gnomAD-4.0.0 | 6.57376E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-05 | 0 | 0 |
| A/S | rs748347572 |
-0.277 | 0.007 | N | 0.159 | 0.079 | 0.253205268125 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.63E-05 | None | 0 | 0 | 0 |
| A/S | rs748347572 |
-0.277 | 0.007 | N | 0.159 | 0.079 | 0.253205268125 | gnomAD-4.0.0 | 3.46658E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.11246E-07 | 4.74305E-05 | 0 |
| A/V | rs201003628 |
None | 0.774 | N | 0.513 | 0.255 | 0.541557034822 | 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/V | rs201003628 |
None | 0.774 | N | 0.513 | 0.255 | 0.541557034822 | gnomAD-4.0.0 | 2.51075E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.71724E-06 | 1.12526E-05 | 1.62612E-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 | 0.488 | ambiguous | 0.544 | ambiguous | -1.059 | Destabilizing | 0.992 | D | 0.556 | neutral | None | None | None | None | N |
| A/D | 0.3032 | likely_benign | 0.3208 | benign | -0.597 | Destabilizing | 0.005 | N | 0.372 | neutral | None | None | None | None | N |
| A/E | 0.2407 | likely_benign | 0.2516 | benign | -0.693 | Destabilizing | 0.017 | N | 0.21 | neutral | N | 0.409938332 | None | None | N |
| A/F | 0.2469 | likely_benign | 0.2613 | benign | -1.192 | Destabilizing | 0.92 | D | 0.664 | neutral | None | None | None | None | N |
| A/G | 0.1733 | likely_benign | 0.1802 | benign | -0.781 | Destabilizing | 0.39 | N | 0.518 | neutral | N | 0.513164275 | None | None | N |
| A/H | 0.3982 | ambiguous | 0.4227 | ambiguous | -0.855 | Destabilizing | 0.92 | D | 0.644 | neutral | None | None | None | None | N |
| A/I | 0.162 | likely_benign | 0.1793 | benign | -0.47 | Destabilizing | 0.85 | D | 0.627 | neutral | None | None | None | None | N |
| A/K | 0.3616 | ambiguous | 0.3897 | ambiguous | -0.669 | Destabilizing | 0.447 | N | 0.589 | neutral | None | None | None | None | N |
| A/L | 0.1324 | likely_benign | 0.1388 | benign | -0.47 | Destabilizing | 0.447 | N | 0.589 | neutral | None | None | None | None | N |
| A/M | 0.1684 | likely_benign | 0.1784 | benign | -0.44 | Destabilizing | 0.992 | D | 0.602 | neutral | None | None | None | None | N |
| A/N | 0.2192 | likely_benign | 0.2285 | benign | -0.439 | Destabilizing | 0.447 | N | 0.647 | neutral | None | None | None | None | N |
| A/P | 0.4365 | ambiguous | 0.4608 | ambiguous | -0.494 | Destabilizing | 0.896 | D | 0.625 | neutral | N | 0.479841135 | None | None | N |
| A/Q | 0.2816 | likely_benign | 0.2935 | benign | -0.699 | Destabilizing | 0.85 | D | 0.625 | neutral | None | None | None | None | N |
| A/R | 0.3298 | likely_benign | 0.3646 | ambiguous | -0.339 | Destabilizing | 0.85 | D | 0.622 | neutral | None | None | None | None | N |
| A/S | 0.0846 | likely_benign | 0.083 | benign | -0.787 | Destabilizing | 0.007 | N | 0.159 | neutral | N | 0.405687306 | None | None | N |
| A/T | 0.0751 | likely_benign | 0.0771 | benign | -0.793 | Destabilizing | 0.007 | N | 0.149 | neutral | N | 0.409170328 | None | None | N |
| A/V | 0.0927 | likely_benign | 0.102 | benign | -0.494 | Destabilizing | 0.774 | D | 0.513 | neutral | N | 0.443130973 | None | None | N |
| A/W | 0.6787 | likely_pathogenic | 0.725 | pathogenic | -1.342 | Destabilizing | 0.992 | D | 0.681 | prob.neutral | None | None | None | None | N |
| A/Y | 0.3823 | ambiguous | 0.401 | ambiguous | -0.944 | Destabilizing | 0.972 | D | 0.664 | 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.