Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25656 | 77191;77192;77193 | chr2:178569166;178569165;178569164 | chr2:179433893;179433892;179433891 |
| N2AB | 24015 | 72268;72269;72270 | chr2:178569166;178569165;178569164 | chr2:179433893;179433892;179433891 |
| N2A | 23088 | 69487;69488;69489 | chr2:178569166;178569165;178569164 | chr2:179433893;179433892;179433891 |
| N2B | 16591 | 49996;49997;49998 | chr2:178569166;178569165;178569164 | chr2:179433893;179433892;179433891 |
| Novex-1 | 16716 | 50371;50372;50373 | chr2:178569166;178569165;178569164 | chr2:179433893;179433892;179433891 |
| Novex-2 | 16783 | 50572;50573;50574 | chr2:178569166;178569165;178569164 | chr2:179433893;179433892;179433891 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs755172663  |
-0.098 | 0.571 | N | 0.261 | 0.195 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 8.27E-05 | 2.83E-05 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 7.83E-06 | 0 |
| H/R | rs755172663 |
-0.098 | 0.571 | N | 0.261 | 0.195 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| H/R | rs755172663 |
-0.098 | 0.571 | N | 0.261 | 0.195 | None | gnomAD-4.0.0 | 1.02555E-05 | None | None | None | None | N | None | 5.07597E-05 | 1.69612E-05 | None | 0 | 4.8499E-05 | None | 0 | 0 | 4.78923E-06 | 0 | 0 |
| H/Y | rs781451643 |
1.203 | 0.92 | N | 0.331 | 0.184 | None | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.34001E-04 | None | 0 | None | 0 | 0 | 0 |
| H/Y | rs781451643 |
1.203 | 0.92 | N | 0.331 | 0.184 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.86698E-04 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs781451643 |
1.203 | 0.92 | N | 0.331 | 0.184 | None | gnomAD-4.0.0 | 5.08354E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.78309E-03 | None | 0 | 0 | 0 | 0 | 3.20379E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.2102 | likely_benign | 0.2475 | benign | 0.448 | Stabilizing | 0.478 | N | 0.331 | neutral | None | None | None | None | N |
| H/C | 0.1495 | likely_benign | 0.1636 | benign | 1.01 | Stabilizing | 0.991 | D | 0.265 | neutral | None | None | None | None | N |
| H/D | 0.3359 | likely_benign | 0.3607 | ambiguous | 0.139 | Stabilizing | 0.172 | N | 0.318 | neutral | N | 0.468012696 | None | None | N |
| H/E | 0.3595 | ambiguous | 0.3981 | ambiguous | 0.163 | Stabilizing | 0.431 | N | 0.276 | neutral | None | None | None | None | N |
| H/F | 0.2574 | likely_benign | 0.2917 | benign | 1.037 | Stabilizing | 0.946 | D | 0.327 | neutral | None | None | None | None | N |
| H/G | 0.2147 | likely_benign | 0.2502 | benign | 0.155 | Stabilizing | 0.478 | N | 0.337 | neutral | None | None | None | None | N |
| H/I | 0.2237 | likely_benign | 0.2583 | benign | 1.197 | Stabilizing | 0.926 | D | 0.307 | neutral | None | None | None | None | N |
| H/K | 0.3003 | likely_benign | 0.3137 | benign | 0.439 | Stabilizing | 0.638 | D | 0.328 | neutral | None | None | None | None | N |
| H/L | 0.0976 | likely_benign | 0.1093 | benign | 1.197 | Stabilizing | 0.571 | D | 0.341 | neutral | N | 0.4911962 | None | None | N |
| H/M | 0.3451 | ambiguous | 0.3863 | ambiguous | 0.988 | Stabilizing | 0.974 | D | 0.267 | neutral | None | None | None | None | N |
| H/N | 0.0874 | likely_benign | 0.0932 | benign | 0.54 | Stabilizing | 0.006 | N | 0.148 | neutral | N | 0.40986847 | None | None | N |
| H/P | 0.0886 | likely_benign | 0.0976 | benign | 0.974 | Stabilizing | 0.877 | D | 0.311 | neutral | N | 0.420200106 | None | None | N |
| H/Q | 0.144 | likely_benign | 0.1654 | benign | 0.643 | Stabilizing | 0.581 | D | 0.31 | neutral | N | 0.463702954 | None | None | N |
| H/R | 0.1459 | likely_benign | 0.1553 | benign | -0.229 | Destabilizing | 0.571 | D | 0.261 | neutral | N | 0.445037049 | None | None | N |
| H/S | 0.1522 | likely_benign | 0.1735 | benign | 0.658 | Stabilizing | 0.024 | N | 0.143 | neutral | None | None | None | None | N |
| H/T | 0.1688 | likely_benign | 0.1927 | benign | 0.78 | Stabilizing | 0.4 | N | 0.336 | neutral | None | None | None | None | N |
| H/V | 0.192 | likely_benign | 0.2176 | benign | 0.974 | Stabilizing | 0.647 | D | 0.332 | neutral | None | None | None | None | N |
| H/W | 0.3904 | ambiguous | 0.4212 | ambiguous | 0.988 | Stabilizing | 0.998 | D | 0.303 | neutral | None | None | None | None | N |
| H/Y | 0.1117 | likely_benign | 0.1203 | benign | 1.319 | Stabilizing | 0.92 | D | 0.331 | neutral | N | 0.470683995 | 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.