Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7650 | 23173;23174;23175 | chr2:178721071;178721070;178721069 | chr2:179585798;179585797;179585796 |
| N2AB | 7333 | 22222;22223;22224 | chr2:178721071;178721070;178721069 | chr2:179585798;179585797;179585796 |
| N2A | 6406 | 19441;19442;19443 | chr2:178721071;178721070;178721069 | chr2:179585798;179585797;179585796 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | rs144326093  |
0.878 | 0.101 | N | 0.303 | 0.275 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/L | rs144326093 |
0.878 | 0.101 | N | 0.303 | 0.275 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| H/L | rs144326093 |
0.878 | 0.101 | N | 0.303 | 0.275 | None | gnomAD-4.0.0 | 6.56607E-06 | None | None | None | None | N | None | 2.40512E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/N | rs868182073 |
None | 0.183 | N | 0.189 | 0.194 | 0.225902525712 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| H/N | rs868182073 |
None | 0.183 | N | 0.189 | 0.194 | 0.225902525712 | gnomAD-4.0.0 | 2.02992E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40987E-06 | 0 | 0 |
| H/Q | None | None | 0.003 | N | 0.178 | 0.086 | 0.126345400529 | gnomAD-4.0.0 | 6.84466E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99805E-07 | 0 | 0 |
| H/R | rs144326093 |
-0.106 | 0.101 | N | 0.173 | 0.15 | 0.208000267992 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| H/R | rs144326093 |
-0.106 | 0.101 | N | 0.173 | 0.15 | 0.208000267992 | gnomAD-4.0.0 | 3.18526E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72312E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1516 | likely_benign | 0.1673 | benign | 0.412 | Stabilizing | 0.061 | N | 0.252 | neutral | None | None | None | None | N |
| H/C | 0.1618 | likely_benign | 0.1701 | benign | 0.6 | Stabilizing | 0.983 | D | 0.266 | neutral | None | None | None | None | N |
| H/D | 0.1522 | likely_benign | 0.1619 | benign | -0.256 | Destabilizing | 0.183 | N | 0.294 | neutral | N | 0.4519611 | None | None | N |
| H/E | 0.1407 | likely_benign | 0.1589 | benign | -0.24 | Destabilizing | 0.129 | N | 0.162 | neutral | None | None | None | None | N |
| H/F | 0.2549 | likely_benign | 0.2965 | benign | 1.022 | Stabilizing | 0.836 | D | 0.324 | neutral | None | None | None | None | N |
| H/G | 0.1797 | likely_benign | 0.1907 | benign | 0.171 | Stabilizing | 0.228 | N | 0.271 | neutral | None | None | None | None | N |
| H/I | 0.2079 | likely_benign | 0.2383 | benign | 1.016 | Stabilizing | 0.264 | N | 0.378 | neutral | None | None | None | None | N |
| H/K | 0.1141 | likely_benign | 0.127 | benign | 0.3 | Stabilizing | 0.004 | N | 0.181 | neutral | None | None | None | None | N |
| H/L | 0.0827 | likely_benign | 0.084 | benign | 1.016 | Stabilizing | 0.101 | N | 0.303 | neutral | N | 0.439743951 | None | None | N |
| H/M | 0.2993 | likely_benign | 0.3489 | ambiguous | 0.657 | Stabilizing | 0.836 | D | 0.294 | neutral | None | None | None | None | N |
| H/N | 0.0906 | likely_benign | 0.085 | benign | 0.144 | Stabilizing | 0.183 | N | 0.189 | neutral | N | 0.459655077 | None | None | N |
| H/P | 0.0946 | likely_benign | 0.0985 | benign | 0.838 | Stabilizing | 0.523 | D | 0.361 | neutral | N | 0.436781004 | None | None | N |
| H/Q | 0.0815 | likely_benign | 0.0854 | benign | 0.233 | Stabilizing | 0.003 | N | 0.178 | neutral | N | 0.444629696 | None | None | N |
| H/R | 0.0606 | likely_benign | 0.0595 | benign | -0.239 | Destabilizing | 0.101 | N | 0.173 | neutral | N | 0.408554253 | None | None | N |
| H/S | 0.137 | likely_benign | 0.1433 | benign | 0.304 | Stabilizing | 0.012 | N | 0.161 | neutral | None | None | None | None | N |
| H/T | 0.1434 | likely_benign | 0.1598 | benign | 0.416 | Stabilizing | 0.129 | N | 0.329 | neutral | None | None | None | None | N |
| H/V | 0.158 | likely_benign | 0.1795 | benign | 0.838 | Stabilizing | 0.01 | N | 0.228 | neutral | None | None | None | None | N |
| H/W | 0.2585 | likely_benign | 0.315 | benign | 0.935 | Stabilizing | 0.983 | D | 0.287 | neutral | None | None | None | None | N |
| H/Y | 0.0919 | likely_benign | 0.1012 | benign | 1.184 | Stabilizing | 0.523 | D | 0.257 | neutral | N | 0.495482591 | 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.