Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15211 | 45856;45857;45858 | chr2:178620979;178620978;178620977 | chr2:179485706;179485705;179485704 |
| N2AB | 13570 | 40933;40934;40935 | chr2:178620979;178620978;178620977 | chr2:179485706;179485705;179485704 |
| N2A | 12643 | 38152;38153;38154 | chr2:178620979;178620978;178620977 | chr2:179485706;179485705;179485704 |
| N2B | 6146 | 18661;18662;18663 | chr2:178620979;178620978;178620977 | chr2:179485706;179485705;179485704 |
| Novex-1 | 6271 | 19036;19037;19038 | chr2:178620979;178620978;178620977 | chr2:179485706;179485705;179485704 |
| Novex-2 | 6338 | 19237;19238;19239 | chr2:178620979;178620978;178620977 | chr2:179485706;179485705;179485704 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1387120198  |
-0.237 | None | N | 0.135 | 0.144 | 0.1749357433 | gnomAD-2.1.1 | 7.21E-06 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.42045E-04 |
| V/I | rs1387120198 |
-0.237 | None | N | 0.135 | 0.144 | 0.1749357433 | gnomAD-3.1.2 | 2.64E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| V/I | rs1387120198 |
-0.237 | None | N | 0.135 | 0.144 | 0.1749357433 | gnomAD-4.0.0 | 1.17969E-05 | None | None | None | None | N | None | 1.34088E-05 | 0 | None | 0 | 0 | None | 0 | 1.65071E-04 | 1.01802E-05 | 2.20902E-05 | 4.81665E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2111 | likely_benign | 0.1701 | benign | -1.155 | Destabilizing | 0.052 | N | 0.325 | neutral | N | 0.449950533 | None | None | N |
| V/C | 0.7668 | likely_pathogenic | 0.6591 | pathogenic | -0.796 | Destabilizing | 0.935 | D | 0.418 | neutral | None | None | None | None | N |
| V/D | 0.5305 | ambiguous | 0.4604 | ambiguous | -1.116 | Destabilizing | 0.555 | D | 0.488 | neutral | None | None | None | None | N |
| V/E | 0.4236 | ambiguous | 0.3869 | ambiguous | -1.163 | Destabilizing | 0.484 | N | 0.453 | neutral | N | 0.457183638 | None | None | N |
| V/F | 0.1921 | likely_benign | 0.1581 | benign | -0.95 | Destabilizing | 0.38 | N | 0.408 | neutral | None | None | None | None | N |
| V/G | 0.3593 | ambiguous | 0.3241 | benign | -1.397 | Destabilizing | 0.484 | N | 0.437 | neutral | N | 0.453382725 | None | None | N |
| V/H | 0.5813 | likely_pathogenic | 0.4821 | ambiguous | -0.829 | Destabilizing | 0.935 | D | 0.482 | neutral | None | None | None | None | N |
| V/I | 0.0577 | likely_benign | 0.0519 | benign | -0.616 | Destabilizing | None | N | 0.135 | neutral | N | 0.380491437 | None | None | N |
| V/K | 0.377 | ambiguous | 0.3194 | benign | -1.123 | Destabilizing | 0.555 | D | 0.459 | neutral | None | None | None | None | N |
| V/L | 0.1331 | likely_benign | 0.1144 | benign | -0.616 | Destabilizing | 0.01 | N | 0.168 | neutral | N | 0.415731064 | None | None | N |
| V/M | 0.136 | likely_benign | 0.1145 | benign | -0.497 | Destabilizing | 0.38 | N | 0.447 | neutral | None | None | None | None | N |
| V/N | 0.3189 | likely_benign | 0.2473 | benign | -0.901 | Destabilizing | 0.791 | D | 0.481 | neutral | None | None | None | None | N |
| V/P | 0.7861 | likely_pathogenic | 0.6564 | pathogenic | -0.76 | Destabilizing | 0.791 | D | 0.471 | neutral | None | None | None | None | N |
| V/Q | 0.4151 | ambiguous | 0.3598 | ambiguous | -1.128 | Destabilizing | 0.791 | D | 0.465 | neutral | None | None | None | None | N |
| V/R | 0.2978 | likely_benign | 0.2386 | benign | -0.474 | Destabilizing | 0.555 | D | 0.481 | neutral | None | None | None | None | N |
| V/S | 0.2754 | likely_benign | 0.2171 | benign | -1.306 | Destabilizing | 0.555 | D | 0.403 | neutral | None | None | None | None | N |
| V/T | 0.1672 | likely_benign | 0.1314 | benign | -1.257 | Destabilizing | 0.149 | N | 0.313 | neutral | None | None | None | None | N |
| V/W | 0.8035 | likely_pathogenic | 0.7558 | pathogenic | -1.086 | Destabilizing | 0.935 | D | 0.595 | neutral | None | None | None | None | N |
| V/Y | 0.6002 | likely_pathogenic | 0.5139 | ambiguous | -0.826 | Destabilizing | 0.555 | D | 0.439 | neutral | None | None | 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.