Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30939 | 93040;93041;93042 | chr2:178548811;178548810;178548809 | chr2:179413538;179413537;179413536 |
| N2AB | 29298 | 88117;88118;88119 | chr2:178548811;178548810;178548809 | chr2:179413538;179413537;179413536 |
| N2A | 28371 | 85336;85337;85338 | chr2:178548811;178548810;178548809 | chr2:179413538;179413537;179413536 |
| N2B | 21874 | 65845;65846;65847 | chr2:178548811;178548810;178548809 | chr2:179413538;179413537;179413536 |
| Novex-1 | 21999 | 66220;66221;66222 | chr2:178548811;178548810;178548809 | chr2:179413538;179413537;179413536 |
| Novex-2 | 22066 | 66421;66422;66423 | chr2:178548811;178548810;178548809 | chr2:179413538;179413537;179413536 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs773375451  |
-0.111 | 0.91 | N | 0.483 | 0.169 | 0.194818534648 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | None | None | 0.961 | N | 0.411 | 0.208 | 0.221734844693 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5898 | likely_pathogenic | 0.621 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.413 | neutral | None | None | None | None | I |
| A/D | 0.742 | likely_pathogenic | 0.7462 | pathogenic | -0.778 | Destabilizing | 0.925 | D | 0.502 | neutral | N | 0.49087712 | None | None | I |
| A/E | 0.6339 | likely_pathogenic | 0.6508 | pathogenic | -0.931 | Destabilizing | 0.97 | D | 0.444 | neutral | None | None | None | None | I |
| A/F | 0.724 | likely_pathogenic | 0.7403 | pathogenic | -1.001 | Destabilizing | 0.999 | D | 0.588 | neutral | None | None | None | None | I |
| A/G | 0.323 | likely_benign | 0.3173 | benign | -0.494 | Destabilizing | 0.91 | D | 0.447 | neutral | N | 0.502486915 | None | None | I |
| A/H | 0.726 | likely_pathogenic | 0.7499 | pathogenic | -0.572 | Destabilizing | 0.996 | D | 0.584 | neutral | None | None | None | None | I |
| A/I | 0.6557 | likely_pathogenic | 0.6512 | pathogenic | -0.395 | Destabilizing | 0.999 | D | 0.431 | neutral | None | None | None | None | I |
| A/K | 0.7907 | likely_pathogenic | 0.8177 | pathogenic | -0.83 | Destabilizing | 0.97 | D | 0.443 | neutral | None | None | None | None | I |
| A/L | 0.5929 | likely_pathogenic | 0.5972 | pathogenic | -0.395 | Destabilizing | 0.985 | D | 0.442 | neutral | None | None | None | None | I |
| A/M | 0.5465 | ambiguous | 0.5564 | ambiguous | -0.323 | Destabilizing | 1.0 | D | 0.446 | neutral | None | None | None | None | I |
| A/N | 0.5029 | ambiguous | 0.5333 | ambiguous | -0.395 | Destabilizing | 0.155 | N | 0.333 | neutral | None | None | None | None | I |
| A/P | 0.9019 | likely_pathogenic | 0.8794 | pathogenic | -0.366 | Destabilizing | 0.998 | D | 0.431 | neutral | N | 0.465175542 | None | None | I |
| A/Q | 0.5891 | likely_pathogenic | 0.6175 | pathogenic | -0.714 | Destabilizing | 0.996 | D | 0.428 | neutral | None | None | None | None | I |
| A/R | 0.6986 | likely_pathogenic | 0.7356 | pathogenic | -0.301 | Destabilizing | 0.996 | D | 0.409 | neutral | None | None | None | None | I |
| A/S | 0.1264 | likely_benign | 0.1235 | benign | -0.576 | Destabilizing | 0.91 | D | 0.483 | neutral | N | 0.50725337 | None | None | I |
| A/T | 0.2931 | likely_benign | 0.284 | benign | -0.657 | Destabilizing | 0.961 | D | 0.411 | neutral | N | 0.461883859 | None | None | I |
| A/V | 0.3151 | likely_benign | 0.3136 | benign | -0.366 | Destabilizing | 0.993 | D | 0.412 | neutral | N | 0.485875233 | None | None | I |
| A/W | 0.9387 | likely_pathogenic | 0.9456 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| A/Y | 0.7876 | likely_pathogenic | 0.7952 | pathogenic | -0.812 | Destabilizing | 0.999 | D | 0.587 | neutral | None | None | None | None | I |
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.