Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3855 | 11788;11789;11790 | chr2:178741670;178741669;178741668 | chr2:179606397;179606396;179606395 |
| N2AB | 3538 | 10837;10838;10839 | chr2:178741670;178741669;178741668 | chr2:179606397;179606396;179606395 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3492 | 10699;10700;10701 | chr2:178741670;178741669;178741668 | chr2:179606397;179606396;179606395 |
| Novex-1 | 3617 | 11074;11075;11076 | chr2:178741670;178741669;178741668 | chr2:179606397;179606396;179606395 |
| Novex-2 | 3684 | 11275;11276;11277 | chr2:178741670;178741669;178741668 | chr2:179606397;179606396;179606395 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1051510859  |
-0.837 | 0.101 | N | 0.417 | 0.155 | 0.156986980423 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 2.47954E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1051510859 |
-0.837 | 0.101 | N | 0.417 | 0.155 | 0.156986980423 | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 2.1714E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs1051510859 |
-0.837 | 0.101 | N | 0.417 | 0.155 | 0.156986980423 | gnomAD-4.0.0 | 1.85904E-05 | None | None | None | None | N | None | 3.3368E-04 | 3.33467E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.80307E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.6428 | likely_pathogenic | 0.6653 | pathogenic | -2.277 | Highly Destabilizing | 0.129 | N | 0.481 | neutral | None | None | None | None | N |
| F/C | 0.1826 | likely_benign | 0.1878 | benign | -1.407 | Destabilizing | 0.001 | N | 0.437 | neutral | N | 0.449670429 | None | None | N |
| F/D | 0.9207 | likely_pathogenic | 0.9154 | pathogenic | -1.604 | Destabilizing | 0.418 | N | 0.661 | neutral | None | None | None | None | N |
| F/E | 0.9065 | likely_pathogenic | 0.901 | pathogenic | -1.442 | Destabilizing | 0.418 | N | 0.607 | neutral | None | None | None | None | N |
| F/G | 0.8517 | likely_pathogenic | 0.8479 | pathogenic | -2.689 | Highly Destabilizing | 0.418 | N | 0.581 | neutral | None | None | None | None | N |
| F/H | 0.3667 | ambiguous | 0.3798 | ambiguous | -1.104 | Destabilizing | 0.001 | N | 0.304 | neutral | None | None | None | None | N |
| F/I | 0.296 | likely_benign | 0.3124 | benign | -0.991 | Destabilizing | 0.351 | N | 0.539 | neutral | N | 0.440308207 | None | None | N |
| F/K | 0.706 | likely_pathogenic | 0.7179 | pathogenic | -1.396 | Destabilizing | 0.264 | N | 0.599 | neutral | None | None | None | None | N |
| F/L | 0.7932 | likely_pathogenic | 0.8189 | pathogenic | -0.991 | Destabilizing | 0.101 | N | 0.417 | neutral | N | 0.41318849 | None | None | N |
| F/M | 0.6721 | likely_pathogenic | 0.6706 | pathogenic | -0.782 | Destabilizing | 0.94 | D | 0.601 | neutral | None | None | None | None | N |
| F/N | 0.7271 | likely_pathogenic | 0.7278 | pathogenic | -1.651 | Destabilizing | 0.418 | N | 0.649 | neutral | None | None | None | None | N |
| F/P | 0.9941 | likely_pathogenic | 0.9935 | pathogenic | -1.421 | Destabilizing | 0.94 | D | 0.672 | neutral | None | None | None | None | N |
| F/Q | 0.6814 | likely_pathogenic | 0.692 | pathogenic | -1.631 | Destabilizing | 0.716 | D | 0.69 | prob.neutral | None | None | None | None | N |
| F/R | 0.464 | ambiguous | 0.4859 | ambiguous | -0.9 | Destabilizing | 0.002 | N | 0.531 | neutral | None | None | None | None | N |
| F/S | 0.4304 | ambiguous | 0.4568 | ambiguous | -2.461 | Highly Destabilizing | 0.351 | N | 0.547 | neutral | N | 0.447902011 | None | None | N |
| F/T | 0.733 | likely_pathogenic | 0.751 | pathogenic | -2.191 | Highly Destabilizing | 0.418 | N | 0.581 | neutral | None | None | None | None | N |
| F/V | 0.2919 | likely_benign | 0.3122 | benign | -1.421 | Destabilizing | 0.213 | N | 0.538 | neutral | N | 0.441087802 | None | None | N |
| F/W | 0.5242 | ambiguous | 0.5311 | ambiguous | -0.162 | Destabilizing | 0.983 | D | 0.583 | neutral | None | None | None | None | N |
| F/Y | 0.1309 | likely_benign | 0.1324 | benign | -0.42 | Destabilizing | 0.351 | N | 0.486 | neutral | N | 0.4332326 | 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.