Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17584 | 52975;52976;52977 | chr2:178608037;178608036;178608035 | chr2:179472764;179472763;179472762 |
| N2AB | 15943 | 48052;48053;48054 | chr2:178608037;178608036;178608035 | chr2:179472764;179472763;179472762 |
| N2A | 15016 | 45271;45272;45273 | chr2:178608037;178608036;178608035 | chr2:179472764;179472763;179472762 |
| N2B | 8519 | 25780;25781;25782 | chr2:178608037;178608036;178608035 | chr2:179472764;179472763;179472762 |
| Novex-1 | 8644 | 26155;26156;26157 | chr2:178608037;178608036;178608035 | chr2:179472764;179472763;179472762 |
| Novex-2 | 8711 | 26356;26357;26358 | chr2:178608037;178608036;178608035 | chr2:179472764;179472763;179472762 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs2055342322  |
None | 0.27 | N | 0.246 | 0.16 | 0.146414634003 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs2055342322 |
None | 0.27 | N | 0.246 | 0.16 | 0.146414634003 | gnomAD-4.0.0 | 1.31577E-05 | None | None | None | None | N | None | 2.41359E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4718E-05 | 0 | 0 |
| T/I | rs776113556 |
-0.366 | 0.473 | N | 0.397 | 0.316 | 0.348764635752 | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.21E-05 | None | 0 | None | 0 | 1.57E-05 | 1.41203E-04 |
| T/I | rs776113556 |
-0.366 | 0.473 | N | 0.397 | 0.316 | 0.348764635752 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs776113556 |
-0.366 | 0.473 | N | 0.397 | 0.316 | 0.348764635752 | gnomAD-4.0.0 | 8.68159E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.24276E-05 | None | 0 | 0 | 9.32773E-06 | 1.09808E-05 | 1.60333E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.089 | likely_benign | 0.0791 | benign | -0.543 | Destabilizing | 0.27 | N | 0.246 | neutral | N | 0.517063011 | None | None | N |
| T/C | 0.4911 | ambiguous | 0.4077 | ambiguous | -0.328 | Destabilizing | 0.995 | D | 0.413 | neutral | None | None | None | None | N |
| T/D | 0.3517 | ambiguous | 0.2951 | benign | 0.321 | Stabilizing | 0.704 | D | 0.395 | neutral | None | None | None | None | N |
| T/E | 0.3024 | likely_benign | 0.2539 | benign | 0.252 | Stabilizing | 0.704 | D | 0.369 | neutral | None | None | None | None | N |
| T/F | 0.3412 | ambiguous | 0.2696 | benign | -1.002 | Destabilizing | 0.807 | D | 0.427 | neutral | None | None | None | None | N |
| T/G | 0.236 | likely_benign | 0.1965 | benign | -0.681 | Destabilizing | 0.543 | D | 0.353 | neutral | None | None | None | None | N |
| T/H | 0.2531 | likely_benign | 0.2134 | benign | -1.042 | Destabilizing | 0.007 | N | 0.26 | neutral | None | None | None | None | N |
| T/I | 0.3583 | ambiguous | 0.2957 | benign | -0.297 | Destabilizing | 0.473 | N | 0.397 | neutral | N | 0.486392983 | None | None | N |
| T/K | 0.1848 | likely_benign | 0.1559 | benign | -0.339 | Destabilizing | 0.642 | D | 0.399 | neutral | N | 0.492569998 | None | None | N |
| T/L | 0.1595 | likely_benign | 0.1347 | benign | -0.297 | Destabilizing | 0.329 | N | 0.338 | neutral | None | None | None | None | N |
| T/M | 0.1301 | likely_benign | 0.1118 | benign | -0.028 | Destabilizing | 0.944 | D | 0.421 | neutral | None | None | None | None | N |
| T/N | 0.1242 | likely_benign | 0.1097 | benign | -0.124 | Destabilizing | 0.704 | D | 0.269 | neutral | None | None | None | None | N |
| T/P | 0.5041 | ambiguous | 0.4243 | ambiguous | -0.351 | Destabilizing | 0.927 | D | 0.465 | neutral | N | 0.486899962 | None | None | N |
| T/Q | 0.2337 | likely_benign | 0.1925 | benign | -0.379 | Destabilizing | 0.944 | D | 0.474 | neutral | None | None | None | None | N |
| T/R | 0.1712 | likely_benign | 0.1377 | benign | -0.116 | Destabilizing | 0.863 | D | 0.463 | neutral | N | 0.486740104 | None | None | N |
| T/S | 0.0991 | likely_benign | 0.0856 | benign | -0.399 | Destabilizing | 0.01 | N | 0.055 | neutral | N | 0.450277871 | None | None | N |
| T/V | 0.2418 | likely_benign | 0.1993 | benign | -0.351 | Destabilizing | 0.007 | N | 0.106 | neutral | None | None | None | None | N |
| T/W | 0.7093 | likely_pathogenic | 0.6334 | pathogenic | -0.941 | Destabilizing | 0.985 | D | 0.383 | neutral | None | None | None | None | N |
| T/Y | 0.3171 | likely_benign | 0.2667 | benign | -0.675 | Destabilizing | 0.031 | N | 0.278 | 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.