Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13915 | 41968;41969;41970 | chr2:178635581;178635580;178635579 | chr2:179500308;179500307;179500306 |
| N2AB | 12274 | 37045;37046;37047 | chr2:178635581;178635580;178635579 | chr2:179500308;179500307;179500306 |
| N2A | 11347 | 34264;34265;34266 | chr2:178635581;178635580;178635579 | chr2:179500308;179500307;179500306 |
| N2B | 4850 | 14773;14774;14775 | chr2:178635581;178635580;178635579 | chr2:179500308;179500307;179500306 |
| Novex-1 | 4975 | 15148;15149;15150 | chr2:178635581;178635580;178635579 | chr2:179500308;179500307;179500306 |
| Novex-2 | 5042 | 15349;15350;15351 | chr2:178635581;178635580;178635579 | chr2:179500308;179500307;179500306 |
| 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 | rs371426048  |
-0.024 | 0.014 | N | 0.164 | 0.017 | None | gnomAD-2.1.1 | 6.9E-05 | None | None | None | None | I | None | 0 | 1.95185E-04 | None | 0 | 6.36E-05 | None | 1.09186E-04 | None | 0 | 5.25E-05 | 0 |
| A/V | rs371426048 |
-0.024 | 0.014 | N | 0.164 | 0.017 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 2.42E-05 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.79846E-04 |
| A/V | rs371426048 |
-0.024 | 0.014 | N | 0.164 | 0.017 | None | gnomAD-4.0.0 | 3.76528E-05 | None | None | None | None | I | None | 4.01725E-05 | 1.58467E-04 | None | 0 | 2.26224E-05 | None | 0 | 0 | 2.65232E-05 | 1.46846E-04 | 4.85893E-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 | 0.4071 | ambiguous | 0.4503 | ambiguous | -0.851 | Destabilizing | 0.204 | N | 0.22 | neutral | None | None | None | None | I |
| A/D | 0.2012 | likely_benign | 0.209 | benign | -0.78 | Destabilizing | 0.035 | N | 0.455 | neutral | None | None | None | None | I |
| A/E | 0.1512 | likely_benign | 0.1552 | benign | -0.914 | Destabilizing | 0.065 | N | 0.366 | neutral | N | 0.443227221 | None | None | I |
| A/F | 0.1565 | likely_benign | 0.1792 | benign | -0.889 | Destabilizing | 0.018 | N | 0.372 | neutral | None | None | None | None | I |
| A/G | 0.106 | likely_benign | 0.1162 | benign | -0.42 | Destabilizing | 0.028 | N | 0.161 | neutral | N | 0.445407988 | None | None | I |
| A/H | 0.29 | likely_benign | 0.2987 | benign | -0.377 | Destabilizing | 0.439 | N | 0.371 | neutral | None | None | None | None | I |
| A/I | 0.1139 | likely_benign | 0.1327 | benign | -0.387 | Destabilizing | 0.007 | N | 0.317 | neutral | None | None | None | None | I |
| A/K | 0.2762 | likely_benign | 0.279 | benign | -0.84 | Destabilizing | 0.015 | N | 0.343 | neutral | None | None | None | None | I |
| A/L | 0.0563 | likely_benign | 0.0638 | benign | -0.387 | Destabilizing | None | N | 0.105 | neutral | None | None | None | None | I |
| A/M | 0.085 | likely_benign | 0.1054 | benign | -0.59 | Destabilizing | None | N | 0.135 | neutral | None | None | None | None | I |
| A/N | 0.1484 | likely_benign | 0.167 | benign | -0.539 | Destabilizing | 0.035 | N | 0.486 | neutral | None | None | None | None | I |
| A/P | 0.0982 | likely_benign | 0.1042 | benign | -0.346 | Destabilizing | 0.052 | N | 0.439 | neutral | N | 0.430398312 | None | None | I |
| A/Q | 0.157 | likely_benign | 0.1678 | benign | -0.8 | Destabilizing | 0.035 | N | 0.465 | neutral | None | None | None | None | I |
| A/R | 0.2621 | likely_benign | 0.2643 | benign | -0.343 | Destabilizing | 0.035 | N | 0.401 | neutral | None | None | None | None | I |
| A/S | 0.0773 | likely_benign | 0.0801 | benign | -0.695 | Destabilizing | 0.006 | N | 0.221 | neutral | N | 0.44103495 | None | None | I |
| A/T | 0.0733 | likely_benign | 0.0811 | benign | -0.752 | Destabilizing | None | N | 0.081 | neutral | N | 0.416479225 | None | None | I |
| A/V | 0.0786 | likely_benign | 0.0879 | benign | -0.346 | Destabilizing | 0.014 | N | 0.164 | neutral | N | 0.445231122 | None | None | I |
| A/W | 0.3157 | likely_benign | 0.3542 | ambiguous | -1.037 | Destabilizing | None | N | 0.293 | neutral | None | None | None | None | I |
| A/Y | 0.256 | likely_benign | 0.2776 | benign | -0.709 | Destabilizing | 0.018 | N | 0.486 | neutral | None | None | None | None | I |
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.