Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21326 | 64201;64202;64203 | chr2:178587235;178587234;178587233 | chr2:179451962;179451961;179451960 |
| N2AB | 19685 | 59278;59279;59280 | chr2:178587235;178587234;178587233 | chr2:179451962;179451961;179451960 |
| N2A | 18758 | 56497;56498;56499 | chr2:178587235;178587234;178587233 | chr2:179451962;179451961;179451960 |
| N2B | 12261 | 37006;37007;37008 | chr2:178587235;178587234;178587233 | chr2:179451962;179451961;179451960 |
| Novex-1 | 12386 | 37381;37382;37383 | chr2:178587235;178587234;178587233 | chr2:179451962;179451961;179451960 |
| Novex-2 | 12453 | 37582;37583;37584 | chr2:178587235;178587234;178587233 | chr2:179451962;179451961;179451960 |
| 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/L | None | None | 0.003 | N | 0.356 | 0.199 | 0.312001716656 | gnomAD-4.0.0 | 6.84428E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99688E-07 | 0 | 0 |
| H/P | None | None | 0.013 | N | 0.35 | 0.197 | 0.227260227426 | gnomAD-4.0.0 | 6.84428E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99688E-07 | 0 | 0 |
| H/R | rs994982613  |
-0.574 | None | N | 0.077 | 0.15 | 0.171388866994 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 1.24028E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.83E-06 | 0 |
| H/R | rs994982613 |
-0.574 | None | N | 0.077 | 0.15 | 0.171388866994 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 1.20656E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| H/R | rs994982613 |
-0.574 | None | N | 0.077 | 0.15 | 0.171388866994 | gnomAD-4.0.0 | 1.23984E-05 | None | None | None | None | N | None | 1.20205E-04 | 0 | None | 0 | 0 | None | 0 | 1.64582E-04 | 4.23922E-06 | 0 | 8.01077E-05 |
| H/Y | rs1413306492 |
1.103 | 0.013 | N | 0.379 | 0.064 | 0.132336055621 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 1.65728E-04 |
| H/Y | rs1413306492 |
1.103 | 0.013 | N | 0.379 | 0.064 | 0.132336055621 | gnomAD-4.0.0 | 4.77731E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.83092E-04 | 0 | 1.43291E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1241 | likely_benign | 0.1482 | benign | -0.16 | Destabilizing | 0.001 | N | 0.361 | neutral | None | None | None | None | N |
| H/C | 0.1183 | likely_benign | 0.1195 | benign | 0.635 | Stabilizing | 0.316 | N | 0.517 | neutral | None | None | None | None | N |
| H/D | 0.2002 | likely_benign | 0.2303 | benign | -0.204 | Destabilizing | 0.001 | N | 0.319 | neutral | N | 0.409908542 | None | None | N |
| H/E | 0.2163 | likely_benign | 0.2213 | benign | -0.127 | Destabilizing | 0.001 | N | 0.155 | neutral | None | None | None | None | N |
| H/F | 0.2159 | likely_benign | 0.2368 | benign | 0.864 | Stabilizing | 0.116 | N | 0.495 | neutral | None | None | None | None | N |
| H/G | 0.2032 | likely_benign | 0.2286 | benign | -0.516 | Destabilizing | 0.001 | N | 0.371 | neutral | None | None | None | None | N |
| H/I | 0.1384 | likely_benign | 0.1694 | benign | 0.801 | Stabilizing | 0.018 | N | 0.505 | neutral | None | None | None | None | N |
| H/K | 0.1316 | likely_benign | 0.1242 | benign | 0.004 | Stabilizing | None | N | 0.185 | neutral | None | None | None | None | N |
| H/L | 0.07 | likely_benign | 0.0732 | benign | 0.801 | Stabilizing | 0.003 | N | 0.356 | neutral | N | 0.376142685 | None | None | N |
| H/M | 0.2079 | likely_benign | 0.256 | benign | 0.63 | Stabilizing | 0.041 | N | 0.612 | neutral | None | None | None | None | N |
| H/N | 0.0733 | likely_benign | 0.0994 | benign | -0.042 | Destabilizing | None | N | 0.077 | neutral | N | 0.389975987 | None | None | N |
| H/P | 0.1023 | likely_benign | 0.1298 | benign | 0.505 | Stabilizing | 0.013 | N | 0.35 | neutral | N | 0.385898319 | None | None | N |
| H/Q | 0.0917 | likely_benign | 0.0975 | benign | 0.162 | Stabilizing | None | N | 0.067 | neutral | N | 0.383607375 | None | None | N |
| H/R | 0.0818 | likely_benign | 0.0653 | benign | -0.65 | Destabilizing | None | N | 0.077 | neutral | N | 0.340856675 | None | None | N |
| H/S | 0.1166 | likely_benign | 0.1445 | benign | 0.03 | Stabilizing | 0.001 | N | 0.287 | neutral | None | None | None | None | N |
| H/T | 0.0994 | likely_benign | 0.1257 | benign | 0.214 | Stabilizing | 0.002 | N | 0.349 | neutral | None | None | None | None | N |
| H/V | 0.1143 | likely_benign | 0.134 | benign | 0.505 | Stabilizing | 0.004 | N | 0.321 | neutral | None | None | None | None | N |
| H/W | 0.3201 | likely_benign | 0.2744 | benign | 1.019 | Stabilizing | 0.316 | N | 0.521 | neutral | None | None | None | None | N |
| H/Y | 0.0918 | likely_benign | 0.103 | benign | 1.193 | Stabilizing | 0.013 | N | 0.379 | neutral | N | 0.408620463 | 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.