Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22251 | 66976;66977;66978 | chr2:178581517;178581516;178581515 | chr2:179446244;179446243;179446242 |
| N2AB | 20610 | 62053;62054;62055 | chr2:178581517;178581516;178581515 | chr2:179446244;179446243;179446242 |
| N2A | 19683 | 59272;59273;59274 | chr2:178581517;178581516;178581515 | chr2:179446244;179446243;179446242 |
| N2B | 13186 | 39781;39782;39783 | chr2:178581517;178581516;178581515 | chr2:179446244;179446243;179446242 |
| Novex-1 | 13311 | 40156;40157;40158 | chr2:178581517;178581516;178581515 | chr2:179446244;179446243;179446242 |
| Novex-2 | 13378 | 40357;40358;40359 | chr2:178581517;178581516;178581515 | chr2:179446244;179446243;179446242 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs1298637846  |
-0.383 | 0.05 | N | 0.369 | 0.05 | 0.166414681773 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/N | rs1298637846 |
-0.066 | 0.003 | N | 0.353 | 0.057 | 0.309530620856 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.16E-06 | 0 |
| Y/N | rs1298637846 |
-0.066 | 0.003 | N | 0.353 | 0.057 | 0.309530620856 | gnomAD-4.0.0 | 1.62264E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.92495E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.1569 | likely_benign | 0.137 | benign | -1.828 | Destabilizing | None | N | 0.227 | neutral | None | None | None | None | N |
| Y/C | 0.0655 | likely_benign | 0.0573 | benign | -0.211 | Destabilizing | None | N | 0.167 | neutral | N | 0.425809075 | None | None | N |
| Y/D | 0.2093 | likely_benign | 0.1824 | benign | -0.416 | Destabilizing | 0.003 | N | 0.373 | neutral | N | 0.433447123 | None | None | N |
| Y/E | 0.2964 | likely_benign | 0.2538 | benign | -0.386 | Destabilizing | 0.002 | N | 0.352 | neutral | None | None | None | None | N |
| Y/F | 0.0664 | likely_benign | 0.0683 | benign | -0.923 | Destabilizing | None | N | 0.086 | neutral | N | 0.407049956 | None | None | N |
| Y/G | 0.2334 | likely_benign | 0.2218 | benign | -2.1 | Highly Destabilizing | 0.002 | N | 0.329 | neutral | None | None | None | None | N |
| Y/H | 0.102 | likely_benign | 0.0914 | benign | -0.815 | Destabilizing | 0.05 | N | 0.369 | neutral | N | 0.43379384 | None | None | N |
| Y/I | 0.1018 | likely_benign | 0.1057 | benign | -1.035 | Destabilizing | None | N | 0.168 | neutral | None | None | None | None | N |
| Y/K | 0.2004 | likely_benign | 0.1855 | benign | -0.648 | Destabilizing | 0.001 | N | 0.318 | neutral | None | None | None | None | N |
| Y/L | 0.1458 | likely_benign | 0.1453 | benign | -1.035 | Destabilizing | None | N | 0.129 | neutral | None | None | None | None | N |
| Y/M | 0.2181 | likely_benign | 0.2106 | benign | -0.561 | Destabilizing | None | N | 0.217 | neutral | None | None | None | None | N |
| Y/N | 0.0881 | likely_benign | 0.0816 | benign | -0.765 | Destabilizing | 0.003 | N | 0.353 | neutral | N | 0.425635717 | None | None | N |
| Y/P | 0.4789 | ambiguous | 0.4369 | ambiguous | -1.289 | Destabilizing | 0.008 | N | 0.419 | neutral | None | None | None | None | N |
| Y/Q | 0.1749 | likely_benign | 0.1605 | benign | -0.765 | Destabilizing | 0.004 | N | 0.401 | neutral | None | None | None | None | N |
| Y/R | 0.1456 | likely_benign | 0.1383 | benign | -0.231 | Destabilizing | None | N | 0.245 | neutral | None | None | None | None | N |
| Y/S | 0.0704 | likely_benign | 0.0671 | benign | -1.187 | Destabilizing | None | N | 0.331 | neutral | N | 0.424595567 | None | None | N |
| Y/T | 0.1192 | likely_benign | 0.104 | benign | -1.069 | Destabilizing | None | N | 0.137 | neutral | None | None | None | None | N |
| Y/V | 0.0929 | likely_benign | 0.0919 | benign | -1.289 | Destabilizing | None | N | 0.136 | neutral | None | None | None | None | N |
| Y/W | 0.3195 | likely_benign | 0.3153 | benign | -0.742 | Destabilizing | 0.176 | N | 0.364 | 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.