Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27552 | 82879;82880;82881 | chr2:178563478;178563477;178563476 | chr2:179428205;179428204;179428203 |
| N2AB | 25911 | 77956;77957;77958 | chr2:178563478;178563477;178563476 | chr2:179428205;179428204;179428203 |
| N2A | 24984 | 75175;75176;75177 | chr2:178563478;178563477;178563476 | chr2:179428205;179428204;179428203 |
| N2B | 18487 | 55684;55685;55686 | chr2:178563478;178563477;178563476 | chr2:179428205;179428204;179428203 |
| Novex-1 | 18612 | 56059;56060;56061 | chr2:178563478;178563477;178563476 | chr2:179428205;179428204;179428203 |
| Novex-2 | 18679 | 56260;56261;56262 | chr2:178563478;178563477;178563476 | chr2:179428205;179428204;179428203 |
| 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/G | rs1215140042  |
None | 0.773 | N | 0.694 | 0.403 | 0.798687382396 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | N | None | 5.65547E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs368730078 |
-0.556 | 0.09 | N | 0.446 | 0.109 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 5.14E-05 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs368730078 |
-0.556 | 0.09 | N | 0.446 | 0.109 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 1.93274E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs368730078 |
-0.556 | 0.09 | N | 0.446 | 0.109 | None | gnomAD-4.0.0 | 7.6876E-06 | None | None | None | None | N | None | 5.07511E-05 | 0 | None | 0 | 7.28332E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1136 | likely_benign | 0.1236 | benign | -0.982 | Destabilizing | 0.165 | N | 0.489 | neutral | N | 0.494833938 | None | None | N |
| V/C | 0.5789 | likely_pathogenic | 0.6123 | pathogenic | -0.729 | Destabilizing | 0.981 | D | 0.653 | neutral | None | None | None | None | N |
| V/D | 0.4186 | ambiguous | 0.4848 | ambiguous | -0.603 | Destabilizing | 0.818 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/E | 0.2881 | likely_benign | 0.3385 | benign | -0.693 | Destabilizing | 0.773 | D | 0.702 | prob.neutral | N | 0.509896604 | None | None | N |
| V/F | 0.1409 | likely_benign | 0.1567 | benign | -1.028 | Destabilizing | 0.527 | D | 0.675 | neutral | None | None | None | None | N |
| V/G | 0.2114 | likely_benign | 0.2459 | benign | -1.184 | Destabilizing | 0.773 | D | 0.694 | prob.neutral | N | 0.489015286 | None | None | N |
| V/H | 0.4976 | ambiguous | 0.5497 | ambiguous | -0.662 | Destabilizing | 0.981 | D | 0.725 | prob.delet. | None | None | None | None | N |
| V/I | 0.0627 | likely_benign | 0.0637 | benign | -0.575 | Destabilizing | 0.008 | N | 0.269 | neutral | None | None | None | None | N |
| V/K | 0.2869 | likely_benign | 0.337 | benign | -0.701 | Destabilizing | 0.818 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/L | 0.1358 | likely_benign | 0.155 | benign | -0.575 | Destabilizing | 0.001 | N | 0.253 | neutral | N | 0.459739929 | None | None | N |
| V/M | 0.1113 | likely_benign | 0.131 | benign | -0.419 | Destabilizing | 0.09 | N | 0.446 | neutral | N | 0.519751025 | None | None | N |
| V/N | 0.2577 | likely_benign | 0.3222 | benign | -0.373 | Destabilizing | 0.818 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/P | 0.2791 | likely_benign | 0.3002 | benign | -0.674 | Destabilizing | 0.932 | D | 0.724 | prob.delet. | None | None | None | None | N |
| V/Q | 0.2781 | likely_benign | 0.3165 | benign | -0.654 | Destabilizing | 0.818 | D | 0.728 | prob.delet. | None | None | None | None | N |
| V/R | 0.2334 | likely_benign | 0.2516 | benign | -0.117 | Destabilizing | 0.818 | D | 0.732 | prob.delet. | None | None | None | None | N |
| V/S | 0.1817 | likely_benign | 0.2122 | benign | -0.835 | Destabilizing | 0.241 | N | 0.675 | prob.neutral | None | None | None | None | N |
| V/T | 0.1091 | likely_benign | 0.1233 | benign | -0.821 | Destabilizing | 0.008 | N | 0.285 | neutral | None | None | None | None | N |
| V/W | 0.6284 | likely_pathogenic | 0.6903 | pathogenic | -1.074 | Destabilizing | 0.981 | D | 0.742 | deleterious | None | None | None | None | N |
| V/Y | 0.4434 | ambiguous | 0.484 | ambiguous | -0.796 | Destabilizing | 0.818 | D | 0.665 | 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.