Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25784 | 77575;77576;77577 | chr2:178568782;178568781;178568780 | chr2:179433509;179433508;179433507 |
| N2AB | 24143 | 72652;72653;72654 | chr2:178568782;178568781;178568780 | chr2:179433509;179433508;179433507 |
| N2A | 23216 | 69871;69872;69873 | chr2:178568782;178568781;178568780 | chr2:179433509;179433508;179433507 |
| N2B | 16719 | 50380;50381;50382 | chr2:178568782;178568781;178568780 | chr2:179433509;179433508;179433507 |
| Novex-1 | 16844 | 50755;50756;50757 | chr2:178568782;178568781;178568780 | chr2:179433509;179433508;179433507 |
| Novex-2 | 16911 | 50956;50957;50958 | chr2:178568782;178568781;178568780 | chr2:179433509;179433508;179433507 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.994 | N | 0.542 | 0.217 | 0.356072328145 | gnomAD-4.0.0 | 6.84554E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9976E-07 | 0 | 0 |
| S/P | rs1383491099  |
-0.091 | 0.815 | N | 0.575 | 0.176 | 0.15556083564 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1383491099 |
-0.091 | 0.815 | N | 0.575 | 0.176 | 0.15556083564 | gnomAD-4.0.0 | 1.5931E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78087E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0633 | likely_benign | 0.0655 | benign | -0.519 | Destabilizing | 0.003 | N | 0.171 | neutral | N | 0.46681783 | None | None | N |
| S/C | 0.1034 | likely_benign | 0.0968 | benign | -0.342 | Destabilizing | 0.994 | D | 0.542 | neutral | N | 0.486963816 | None | None | N |
| S/D | 0.4477 | ambiguous | 0.4221 | ambiguous | 0.143 | Stabilizing | 0.742 | D | 0.408 | neutral | None | None | None | None | N |
| S/E | 0.4221 | ambiguous | 0.4139 | ambiguous | 0.167 | Stabilizing | 0.373 | N | 0.381 | neutral | None | None | None | None | N |
| S/F | 0.1618 | likely_benign | 0.1563 | benign | -0.648 | Destabilizing | 0.884 | D | 0.592 | neutral | N | 0.486963816 | None | None | N |
| S/G | 0.1141 | likely_benign | 0.1083 | benign | -0.782 | Destabilizing | 0.373 | N | 0.384 | neutral | None | None | None | None | N |
| S/H | 0.3315 | likely_benign | 0.312 | benign | -1.124 | Destabilizing | 0.953 | D | 0.551 | neutral | None | None | None | None | N |
| S/I | 0.1129 | likely_benign | 0.1076 | benign | 0.076 | Stabilizing | 0.59 | D | 0.553 | neutral | None | None | None | None | N |
| S/K | 0.6462 | likely_pathogenic | 0.6344 | pathogenic | -0.44 | Destabilizing | 0.59 | D | 0.399 | neutral | None | None | None | None | N |
| S/L | 0.0764 | likely_benign | 0.0739 | benign | 0.076 | Stabilizing | 0.009 | N | 0.461 | neutral | None | None | None | None | N |
| S/M | 0.1409 | likely_benign | 0.1312 | benign | 0.013 | Stabilizing | 0.91 | D | 0.545 | neutral | None | None | None | None | N |
| S/N | 0.1326 | likely_benign | 0.1161 | benign | -0.436 | Destabilizing | 0.742 | D | 0.417 | neutral | None | None | None | None | N |
| S/P | 0.0909 | likely_benign | 0.1079 | benign | -0.088 | Destabilizing | 0.815 | D | 0.575 | neutral | N | 0.436668282 | None | None | N |
| S/Q | 0.3807 | ambiguous | 0.3658 | ambiguous | -0.46 | Destabilizing | 0.101 | N | 0.163 | neutral | None | None | None | None | N |
| S/R | 0.6161 | likely_pathogenic | 0.6037 | pathogenic | -0.422 | Destabilizing | 0.742 | D | 0.518 | neutral | None | None | None | None | N |
| S/T | 0.0797 | likely_benign | 0.0725 | benign | -0.429 | Destabilizing | 0.007 | N | 0.183 | neutral | N | 0.418602596 | None | None | N |
| S/V | 0.1121 | likely_benign | 0.1093 | benign | -0.088 | Destabilizing | 0.373 | N | 0.477 | neutral | None | None | None | None | N |
| S/W | 0.323 | likely_benign | 0.3205 | benign | -0.71 | Destabilizing | 0.996 | D | 0.627 | neutral | None | None | None | None | N |
| S/Y | 0.1623 | likely_benign | 0.1567 | benign | -0.389 | Destabilizing | 0.979 | D | 0.589 | neutral | N | 0.468204697 | 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.