Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28570 | 85933;85934;85935 | chr2:178560424;178560423;178560422 | chr2:179425151;179425150;179425149 |
| N2AB | 26929 | 81010;81011;81012 | chr2:178560424;178560423;178560422 | chr2:179425151;179425150;179425149 |
| N2A | 26002 | 78229;78230;78231 | chr2:178560424;178560423;178560422 | chr2:179425151;179425150;179425149 |
| N2B | 19505 | 58738;58739;58740 | chr2:178560424;178560423;178560422 | chr2:179425151;179425150;179425149 |
| Novex-1 | 19630 | 59113;59114;59115 | chr2:178560424;178560423;178560422 | chr2:179425151;179425150;179425149 |
| Novex-2 | 19697 | 59314;59315;59316 | chr2:178560424;178560423;178560422 | chr2:179425151;179425150;179425149 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs753342822  |
-0.841 | 0.884 | N | 0.657 | 0.357 | 0.73279132044 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/R | rs753342822 |
-0.841 | 0.884 | N | 0.657 | 0.357 | 0.73279132044 | gnomAD-4.0.0 | 1.36853E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99465E-07 | 1.15945E-05 | 0 |
| C/Y | rs1038148800 |
-1.065 | 0.028 | N | 0.495 | 0.303 | 0.625633723092 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs1038148800 |
-1.065 | 0.028 | N | 0.495 | 0.303 | 0.625633723092 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs1038148800 |
-1.065 | 0.028 | N | 0.495 | 0.303 | 0.625633723092 | gnomAD-4.0.0 | 1.8593E-06 | None | None | None | None | N | None | 4.0062E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4468 | ambiguous | 0.3755 | ambiguous | -1.543 | Destabilizing | 0.373 | N | 0.392 | neutral | None | None | None | None | N |
| C/D | 0.8475 | likely_pathogenic | 0.7733 | pathogenic | -1.155 | Destabilizing | 0.91 | D | 0.618 | neutral | None | None | None | None | N |
| C/E | 0.8574 | likely_pathogenic | 0.7954 | pathogenic | -0.961 | Destabilizing | 0.91 | D | 0.616 | neutral | None | None | None | None | N |
| C/F | 0.2686 | likely_benign | 0.2346 | benign | -0.963 | Destabilizing | 0.792 | D | 0.575 | neutral | N | 0.52015367 | None | None | N |
| C/G | 0.2663 | likely_benign | 0.2046 | benign | -1.892 | Destabilizing | 0.521 | D | 0.542 | neutral | N | 0.456256907 | None | None | N |
| C/H | 0.5231 | ambiguous | 0.4438 | ambiguous | -2.2 | Highly Destabilizing | 0.953 | D | 0.688 | prob.neutral | None | None | None | None | N |
| C/I | 0.4844 | ambiguous | 0.4425 | ambiguous | -0.623 | Destabilizing | 0.953 | D | 0.485 | neutral | None | None | None | None | N |
| C/K | 0.8471 | likely_pathogenic | 0.7661 | pathogenic | -1.076 | Destabilizing | 0.91 | D | 0.609 | neutral | None | None | None | None | N |
| C/L | 0.4388 | ambiguous | 0.3969 | ambiguous | -0.623 | Destabilizing | 0.742 | D | 0.431 | neutral | None | None | None | None | N |
| C/M | 0.6076 | likely_pathogenic | 0.5544 | ambiguous | 0.186 | Stabilizing | 0.996 | D | 0.555 | neutral | None | None | None | None | N |
| C/N | 0.5502 | ambiguous | 0.4538 | ambiguous | -1.475 | Destabilizing | 0.91 | D | 0.635 | neutral | None | None | None | None | N |
| C/P | 0.9882 | likely_pathogenic | 0.9844 | pathogenic | -0.905 | Destabilizing | 0.953 | D | 0.657 | neutral | None | None | None | None | N |
| C/Q | 0.607 | likely_pathogenic | 0.5249 | ambiguous | -1.121 | Destabilizing | 0.91 | D | 0.676 | prob.neutral | None | None | None | None | N |
| C/R | 0.5303 | ambiguous | 0.4361 | ambiguous | -1.346 | Destabilizing | 0.884 | D | 0.657 | neutral | N | 0.462681447 | None | None | N |
| C/S | 0.2763 | likely_benign | 0.22 | benign | -1.823 | Destabilizing | 0.028 | N | 0.363 | neutral | N | 0.389295622 | None | None | N |
| C/T | 0.4001 | ambiguous | 0.337 | benign | -1.443 | Destabilizing | 0.59 | D | 0.409 | neutral | None | None | None | None | N |
| C/V | 0.421 | ambiguous | 0.3852 | ambiguous | -0.905 | Destabilizing | 0.742 | D | 0.409 | neutral | None | None | None | None | N |
| C/W | 0.6248 | likely_pathogenic | 0.5684 | pathogenic | -1.288 | Destabilizing | 0.994 | D | 0.643 | neutral | N | 0.470430505 | None | None | N |
| C/Y | 0.3685 | ambiguous | 0.3249 | benign | -1.101 | Destabilizing | 0.028 | N | 0.495 | neutral | N | 0.477178455 | 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.