Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16577 | 49954;49955;49956 | chr2:178612992;178612991;178612990 | chr2:179477719;179477718;179477717 |
| N2AB | 14936 | 45031;45032;45033 | chr2:178612992;178612991;178612990 | chr2:179477719;179477718;179477717 |
| N2A | 14009 | 42250;42251;42252 | chr2:178612992;178612991;178612990 | chr2:179477719;179477718;179477717 |
| N2B | 7512 | 22759;22760;22761 | chr2:178612992;178612991;178612990 | chr2:179477719;179477718;179477717 |
| Novex-1 | 7637 | 23134;23135;23136 | chr2:178612992;178612991;178612990 | chr2:179477719;179477718;179477717 |
| Novex-2 | 7704 | 23335;23336;23337 | chr2:178612992;178612991;178612990 | chr2:179477719;179477718;179477717 |
| 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/Q | rs2115558  |
0.03 | 1.0 | N | 0.627 | 0.34 | 0.0954503805726 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Q | rs2115558 |
0.03 | 1.0 | N | 0.627 | 0.34 | 0.0954503805726 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | rs2115558 |
0.03 | 1.0 | N | 0.627 | 0.34 | 0.0954503805726 | gnomAD-4.0.0 | 1.24036E-06 | None | None | None | None | N | None | 0 | 3.33923E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs752077667 |
-0.574 | 1.0 | N | 0.591 | 0.409 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| H/R | rs752077667 |
-0.574 | 1.0 | N | 0.591 | 0.409 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| H/R | rs752077667 |
-0.574 | 1.0 | N | 0.591 | 0.409 | None | gnomAD-4.0.0 | 8.97936E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.67721E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.8949 | likely_pathogenic | 0.9089 | pathogenic | -0.001 | Destabilizing | 0.999 | D | 0.507 | neutral | None | None | None | None | N |
| H/C | 0.6743 | likely_pathogenic | 0.71 | pathogenic | 0.495 | Stabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| H/D | 0.8179 | likely_pathogenic | 0.8706 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.586 | neutral | N | 0.440200392 | None | None | N |
| H/E | 0.881 | likely_pathogenic | 0.899 | pathogenic | -0.063 | Destabilizing | 0.999 | D | 0.445 | neutral | None | None | None | None | N |
| H/F | 0.7213 | likely_pathogenic | 0.7125 | pathogenic | 0.876 | Stabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| H/G | 0.8806 | likely_pathogenic | 0.9065 | pathogenic | -0.324 | Destabilizing | 0.999 | D | 0.542 | neutral | None | None | None | None | N |
| H/I | 0.9106 | likely_pathogenic | 0.9183 | pathogenic | 0.851 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| H/K | 0.7526 | likely_pathogenic | 0.7544 | pathogenic | 0.127 | Stabilizing | 1.0 | D | 0.585 | neutral | None | None | None | None | N |
| H/L | 0.6559 | likely_pathogenic | 0.7039 | pathogenic | 0.851 | Stabilizing | 1.0 | D | 0.673 | neutral | N | 0.469534906 | None | None | N |
| H/M | 0.8858 | likely_pathogenic | 0.8954 | pathogenic | 0.563 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| H/N | 0.4964 | ambiguous | 0.5089 | ambiguous | 0.013 | Stabilizing | 0.999 | D | 0.444 | neutral | N | 0.453091037 | None | None | N |
| H/P | 0.9196 | likely_pathogenic | 0.9534 | pathogenic | 0.592 | Stabilizing | 1.0 | D | 0.671 | neutral | N | 0.469360705 | None | None | N |
| H/Q | 0.7617 | likely_pathogenic | 0.7577 | pathogenic | 0.174 | Stabilizing | 1.0 | D | 0.627 | neutral | N | 0.47205966 | None | None | N |
| H/R | 0.5218 | ambiguous | 0.5223 | ambiguous | -0.464 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.466853808 | None | None | N |
| H/S | 0.8386 | likely_pathogenic | 0.8458 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| H/T | 0.8864 | likely_pathogenic | 0.8932 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| H/V | 0.8705 | likely_pathogenic | 0.8829 | pathogenic | 0.592 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| H/W | 0.7577 | likely_pathogenic | 0.7928 | pathogenic | 0.985 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| H/Y | 0.3725 | ambiguous | 0.3951 | ambiguous | 1.184 | Stabilizing | 0.999 | D | 0.449 | neutral | N | 0.456308078 | 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.