Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9162 | 27709;27710;27711 | chr2:178712438;178712437;178712436 | chr2:179577165;179577164;179577163 |
| N2AB | 8845 | 26758;26759;26760 | chr2:178712438;178712437;178712436 | chr2:179577165;179577164;179577163 |
| N2A | 7918 | 23977;23978;23979 | chr2:178712438;178712437;178712436 | chr2:179577165;179577164;179577163 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/K | None | None | 0.942 | D | 0.654 | 0.296 | 0.446613173091 | gnomAD-4.0.0 | 6.84197E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 0 |
| T/M | rs199793620  |
0.232 | 0.996 | N | 0.683 | 0.426 | None | gnomAD-2.1.1 | 8.56E-05 | None | None | None | None | N | None | 9.50728E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/M | rs199793620 |
0.232 | 0.996 | N | 0.683 | 0.426 | None | gnomAD-3.1.2 | 2.82787E-04 | None | None | None | None | N | None | 9.41938E-04 | 1.31165E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.79846E-04 |
| T/M | rs199793620 |
0.232 | 0.996 | N | 0.683 | 0.426 | None | gnomAD-4.0.0 | 7.00286E-05 | None | None | None | None | N | None | 1.21538E-03 | 5.003E-05 | None | 0 | 2.22866E-05 | None | 1.56265E-05 | 0 | 1.01712E-05 | 0 | 8.00641E-05 |
| T/R | rs199793620 |
0.168 | 0.942 | N | 0.694 | 0.285 | 0.52127940124 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| T/R | rs199793620 |
0.168 | 0.942 | N | 0.694 | 0.285 | 0.52127940124 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79891E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0752 | likely_benign | 0.0705 | benign | -0.563 | Destabilizing | 0.006 | N | 0.361 | neutral | N | 0.504600719 | None | None | N |
| T/C | 0.4473 | ambiguous | 0.4198 | ambiguous | -0.306 | Destabilizing | 0.985 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/D | 0.3943 | ambiguous | 0.4021 | ambiguous | 0.349 | Stabilizing | 0.945 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/E | 0.2553 | likely_benign | 0.2709 | benign | 0.293 | Stabilizing | 0.894 | D | 0.653 | neutral | None | None | None | None | N |
| T/F | 0.1989 | likely_benign | 0.1985 | benign | -0.951 | Destabilizing | 0.945 | D | 0.756 | deleterious | None | None | None | None | N |
| T/G | 0.2826 | likely_benign | 0.252 | benign | -0.728 | Destabilizing | 0.547 | D | 0.686 | prob.neutral | None | None | None | None | N |
| T/H | 0.2485 | likely_benign | 0.2442 | benign | -1.093 | Destabilizing | 0.995 | D | 0.751 | deleterious | None | None | None | None | N |
| T/I | 0.1288 | likely_benign | 0.1312 | benign | -0.238 | Destabilizing | 0.547 | D | 0.654 | neutral | None | None | None | None | N |
| T/K | 0.1803 | likely_benign | 0.1961 | benign | -0.381 | Destabilizing | 0.942 | D | 0.654 | neutral | D | 0.525784068 | None | None | N |
| T/L | 0.0901 | likely_benign | 0.0896 | benign | -0.238 | Destabilizing | 0.547 | D | 0.61 | neutral | None | None | None | None | N |
| T/M | 0.0812 | likely_benign | 0.0822 | benign | 0.011 | Stabilizing | 0.996 | D | 0.683 | prob.neutral | N | 0.509659615 | None | None | N |
| T/N | 0.1362 | likely_benign | 0.1315 | benign | -0.185 | Destabilizing | 0.945 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/P | 0.189 | likely_benign | 0.1962 | benign | -0.316 | Destabilizing | 0.928 | D | 0.697 | prob.neutral | N | 0.493619275 | None | None | N |
| T/Q | 0.2107 | likely_benign | 0.2119 | benign | -0.403 | Destabilizing | 0.945 | D | 0.688 | prob.neutral | None | None | None | None | N |
| T/R | 0.1374 | likely_benign | 0.1493 | benign | -0.184 | Destabilizing | 0.942 | D | 0.694 | prob.neutral | N | 0.488730976 | None | None | N |
| T/S | 0.1184 | likely_benign | 0.1078 | benign | -0.466 | Destabilizing | 0.477 | N | 0.627 | neutral | N | 0.516876583 | None | None | N |
| T/V | 0.105 | likely_benign | 0.101 | benign | -0.316 | Destabilizing | 0.031 | N | 0.39 | neutral | None | None | None | None | N |
| T/W | 0.5559 | ambiguous | 0.5562 | ambiguous | -0.899 | Destabilizing | 0.995 | D | 0.743 | deleterious | None | None | None | None | N |
| T/Y | 0.2278 | likely_benign | 0.224 | benign | -0.634 | Destabilizing | 0.981 | D | 0.755 | deleterious | 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.