Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34266 | 103021;103022;103023 | chr2:178533819;178533818;178533817 | chr2:179398546;179398545;179398544 |
| N2AB | 32625 | 98098;98099;98100 | chr2:178533819;178533818;178533817 | chr2:179398546;179398545;179398544 |
| N2A | 31698 | 95317;95318;95319 | chr2:178533819;178533818;178533817 | chr2:179398546;179398545;179398544 |
| N2B | 25201 | 75826;75827;75828 | chr2:178533819;178533818;178533817 | chr2:179398546;179398545;179398544 |
| Novex-1 | 25326 | 76201;76202;76203 | chr2:178533819;178533818;178533817 | chr2:179398546;179398545;179398544 |
| Novex-2 | 25393 | 76402;76403;76404 | chr2:178533819;178533818;178533817 | chr2:179398546;179398545;179398544 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1167687090  |
0.581 | 0.998 | N | 0.473 | 0.324 | 0.112648838833 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs1167687090 |
0.581 | 0.998 | N | 0.473 | 0.324 | 0.112648838833 | gnomAD-4.0.0 | 1.36831E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 8.99408E-07 | 0 | 0 |
| N/S | None | None | 0.998 | N | 0.437 | 0.352 | 0.141422826196 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| N/Y | None | None | 0.999 | N | 0.671 | 0.39 | 0.301789629655 | gnomAD-4.0.0 | 2.05246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69823E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.6443 | likely_pathogenic | 0.7967 | pathogenic | -0.513 | Destabilizing | 0.998 | D | 0.563 | neutral | None | None | None | None | N |
| N/C | 0.699 | likely_pathogenic | 0.839 | pathogenic | 0.164 | Stabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| N/D | 0.2422 | likely_benign | 0.3212 | benign | 0.264 | Stabilizing | 0.998 | D | 0.473 | neutral | N | 0.378656475 | None | None | N |
| N/E | 0.7491 | likely_pathogenic | 0.8331 | pathogenic | 0.288 | Stabilizing | 0.997 | D | 0.516 | neutral | None | None | None | None | N |
| N/F | 0.9598 | likely_pathogenic | 0.9806 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| N/G | 0.5562 | ambiguous | 0.6927 | pathogenic | -0.751 | Destabilizing | 0.998 | D | 0.427 | neutral | None | None | None | None | N |
| N/H | 0.3461 | ambiguous | 0.4764 | ambiguous | -0.584 | Destabilizing | 0.64 | D | 0.273 | neutral | N | 0.445989698 | None | None | N |
| N/I | 0.8535 | likely_pathogenic | 0.9299 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.442622337 | None | None | N |
| N/K | 0.838 | likely_pathogenic | 0.9105 | pathogenic | 0.084 | Stabilizing | 0.998 | D | 0.539 | neutral | N | 0.453471663 | None | None | N |
| N/L | 0.7801 | likely_pathogenic | 0.8791 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| N/M | 0.8891 | likely_pathogenic | 0.9452 | pathogenic | 0.206 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| N/P | 0.5858 | likely_pathogenic | 0.7689 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| N/Q | 0.7409 | likely_pathogenic | 0.8313 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | N |
| N/R | 0.8019 | likely_pathogenic | 0.8763 | pathogenic | 0.094 | Stabilizing | 1.0 | D | 0.583 | neutral | None | None | None | None | N |
| N/S | 0.1278 | likely_benign | 0.1748 | benign | -0.347 | Destabilizing | 0.998 | D | 0.437 | neutral | N | 0.457751977 | None | None | N |
| N/T | 0.464 | ambiguous | 0.6205 | pathogenic | -0.147 | Destabilizing | 0.999 | D | 0.542 | neutral | N | 0.497907876 | None | None | N |
| N/V | 0.8139 | likely_pathogenic | 0.9081 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/W | 0.9792 | likely_pathogenic | 0.9884 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| N/Y | 0.6832 | likely_pathogenic | 0.7942 | pathogenic | -0.325 | Destabilizing | 0.999 | D | 0.671 | neutral | N | 0.454232131 | 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.