Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35928 | 108007;108008;108009 | chr2:178527206;178527205;178527204 | chr2:179391933;179391932;179391931 |
| N2AB | 34287 | 103084;103085;103086 | chr2:178527206;178527205;178527204 | chr2:179391933;179391932;179391931 |
| N2A | 33360 | 100303;100304;100305 | chr2:178527206;178527205;178527204 | chr2:179391933;179391932;179391931 |
| N2B | 26863 | 80812;80813;80814 | chr2:178527206;178527205;178527204 | chr2:179391933;179391932;179391931 |
| Novex-1 | 26988 | 81187;81188;81189 | chr2:178527206;178527205;178527204 | chr2:179391933;179391932;179391931 |
| Novex-2 | 27055 | 81388;81389;81390 | chr2:178527206;178527205;178527204 | chr2:179391933;179391932;179391931 |
| 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/A | rs763109620  |
-1.97 | 0.052 | D | 0.507 | 0.547 | 0.658958933578 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | -1.643(OBSL1) -0.553(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| V/A | rs763109620 |
-1.97 | 0.052 | D | 0.507 | 0.547 | 0.658958933578 | gnomAD-4.0.0 | 1.36832E-06 | None | None | None | -1.643(OBSL1) -0.553(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79881E-06 | 0 | 0 |
| V/E | rs763109620 |
-1.5 | 0.484 | D | 0.737 | 0.685 | 0.877444639343 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | -1.901(OBSL1) 0.214(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| V/E | rs763109620 |
-1.5 | 0.484 | D | 0.737 | 0.685 | 0.877444639343 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | -1.901(OBSL1) 0.214(OBSCN) | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.8843E-04 | 0 | 0 | 0 | 0 |
| V/E | rs763109620 |
-1.5 | 0.484 | D | 0.737 | 0.685 | 0.877444639343 | gnomAD-4.0.0 | 1.735E-05 | None | None | None | -1.901(OBSL1) 0.214(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 4.06161E-04 | 0 | 0 | 0 | 3.20215E-05 |
| V/L | rs1575170744 |
None | 0.002 | D | 0.399 | 0.244 | 0.352048277211 | gnomAD-4.0.0 | 1.36832E-06 | None | None | None | -2.081(OBSL1) -0.499(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99405E-07 | 0 | 1.65645E-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 | 0.5397 | ambiguous | 0.4797 | ambiguous | -1.837 | Destabilizing | 0.052 | N | 0.507 | neutral | D | 0.540421726 | None | -1.643(OBSL1) -0.553(OBSCN) | N |
| V/C | 0.87 | likely_pathogenic | 0.8576 | pathogenic | -1.368 | Destabilizing | 0.791 | D | 0.647 | neutral | None | None | None | -2.091(OBSL1) 0.139(OBSCN) | N |
| V/D | 0.8936 | likely_pathogenic | 0.832 | pathogenic | -1.853 | Destabilizing | 0.555 | D | 0.755 | deleterious | None | None | None | -1.746(OBSL1) 0.262(OBSCN) | N |
| V/E | 0.7945 | likely_pathogenic | 0.7166 | pathogenic | -1.716 | Destabilizing | 0.484 | N | 0.737 | prob.delet. | D | 0.602722215 | None | -1.901(OBSL1) 0.214(OBSCN) | N |
| V/F | 0.3727 | ambiguous | 0.3039 | benign | -1.197 | Destabilizing | 0.149 | N | 0.633 | neutral | None | None | None | -1.793(OBSL1) 0.3(OBSCN) | N |
| V/G | 0.6368 | likely_pathogenic | 0.5682 | pathogenic | -2.304 | Highly Destabilizing | 0.211 | N | 0.748 | deleterious | D | 0.602722215 | None | -1.51(OBSL1) -0.568(OBSCN) | N |
| V/H | 0.93 | likely_pathogenic | 0.8996 | pathogenic | -1.908 | Destabilizing | 0.935 | D | 0.767 | deleterious | None | None | None | -1.808(OBSL1) 0.515(OBSCN) | N |
| V/I | 0.0599 | likely_benign | 0.0601 | benign | -0.585 | Destabilizing | None | N | 0.221 | neutral | N | 0.425476293 | None | -2.081(OBSL1) -0.499(OBSCN) | N |
| V/K | 0.8016 | likely_pathogenic | 0.722 | pathogenic | -1.562 | Destabilizing | 0.555 | D | 0.736 | prob.delet. | None | None | None | -2.824(OBSL1) -0.265(OBSCN) | N |
| V/L | 0.2867 | likely_benign | 0.2468 | benign | -0.585 | Destabilizing | 0.002 | N | 0.399 | neutral | D | 0.570744163 | None | -2.081(OBSL1) -0.499(OBSCN) | N |
| V/M | 0.232 | likely_benign | 0.2062 | benign | -0.531 | Destabilizing | 0.38 | N | 0.549 | neutral | None | None | None | -1.839(OBSL1) -0.018(OBSCN) | N |
| V/N | 0.7596 | likely_pathogenic | 0.6765 | pathogenic | -1.631 | Destabilizing | 0.791 | D | 0.786 | deleterious | None | None | None | -1.904(OBSL1) -0.328(OBSCN) | N |
| V/P | 0.8811 | likely_pathogenic | 0.8297 | pathogenic | -0.97 | Destabilizing | 0.791 | D | 0.755 | deleterious | None | None | None | -1.93(OBSL1) -0.518(OBSCN) | N |
| V/Q | 0.8063 | likely_pathogenic | 0.7502 | pathogenic | -1.59 | Destabilizing | 0.791 | D | 0.759 | deleterious | None | None | None | -2.089(OBSL1) -0.175(OBSCN) | N |
| V/R | 0.7527 | likely_pathogenic | 0.6735 | pathogenic | -1.26 | Destabilizing | 0.555 | D | 0.783 | deleterious | None | None | None | -2.637(OBSL1) -0.408(OBSCN) | N |
| V/S | 0.6924 | likely_pathogenic | 0.6256 | pathogenic | -2.266 | Highly Destabilizing | 0.262 | N | 0.705 | prob.neutral | None | None | None | -1.949(OBSL1) -0.229(OBSCN) | N |
| V/T | 0.5762 | likely_pathogenic | 0.5162 | ambiguous | -1.984 | Destabilizing | 0.149 | N | 0.551 | neutral | None | None | None | -2.127(OBSL1) -0.252(OBSCN) | N |
| V/W | 0.9286 | likely_pathogenic | 0.9078 | pathogenic | -1.554 | Destabilizing | 0.935 | D | 0.768 | deleterious | None | None | None | -1.915(OBSL1) 0.473(OBSCN) | N |
| V/Y | 0.8114 | likely_pathogenic | 0.7444 | pathogenic | -1.192 | Destabilizing | 0.555 | D | 0.651 | neutral | None | None | None | -1.81(OBSL1) 0.28(OBSCN) | 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.