Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32643 | 98152;98153;98154 | chr2:178540239;178540238;178540237 | chr2:179404966;179404965;179404964 |
| N2AB | 31002 | 93229;93230;93231 | chr2:178540239;178540238;178540237 | chr2:179404966;179404965;179404964 |
| N2A | 30075 | 90448;90449;90450 | chr2:178540239;178540238;178540237 | chr2:179404966;179404965;179404964 |
| N2B | 23578 | 70957;70958;70959 | chr2:178540239;178540238;178540237 | chr2:179404966;179404965;179404964 |
| Novex-1 | 23703 | 71332;71333;71334 | chr2:178540239;178540238;178540237 | chr2:179404966;179404965;179404964 |
| Novex-2 | 23770 | 71533;71534;71535 | chr2:178540239;178540238;178540237 | chr2:179404966;179404965;179404964 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 1.0 | N | 0.551 | 0.369 | 0.204665344411 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88232E-05 | 0 | 0 | 0 | 0 |
| D/Y | rs188081737  |
0.123 | 1.0 | N | 0.673 | 0.484 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs188081737 |
0.123 | 1.0 | N | 0.673 | 0.484 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs188081737 |
0.123 | 1.0 | N | 0.673 | 0.484 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/Y | rs188081737 |
0.123 | 1.0 | N | 0.673 | 0.484 | None | gnomAD-4.0.0 | 5.1239E-06 | None | None | None | None | N | None | 1.68885E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02037E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3159 | likely_benign | 0.391 | ambiguous | -0.083 | Destabilizing | 1.0 | D | 0.632 | neutral | N | 0.470229069 | None | None | N |
| D/C | 0.7377 | likely_pathogenic | 0.8205 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/E | 0.2411 | likely_benign | 0.2833 | benign | -0.347 | Destabilizing | 1.0 | D | 0.401 | neutral | N | 0.472613226 | None | None | N |
| D/F | 0.7311 | likely_pathogenic | 0.7963 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/G | 0.1218 | likely_benign | 0.1562 | benign | -0.209 | Destabilizing | 1.0 | D | 0.551 | neutral | N | 0.377873481 | None | None | N |
| D/H | 0.4366 | ambiguous | 0.5517 | ambiguous | 0.357 | Stabilizing | 1.0 | D | 0.592 | neutral | N | 0.519868455 | None | None | N |
| D/I | 0.679 | likely_pathogenic | 0.7511 | pathogenic | 0.186 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/K | 0.6277 | likely_pathogenic | 0.732 | pathogenic | 0.366 | Stabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| D/L | 0.5601 | ambiguous | 0.6239 | pathogenic | 0.186 | Stabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| D/M | 0.7901 | likely_pathogenic | 0.8342 | pathogenic | 0.062 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| D/N | 0.136 | likely_benign | 0.1667 | benign | 0.147 | Stabilizing | 1.0 | D | 0.532 | neutral | N | 0.459393213 | None | None | N |
| D/P | 0.7887 | likely_pathogenic | 0.8282 | pathogenic | 0.116 | Stabilizing | 1.0 | D | 0.583 | neutral | None | None | None | None | N |
| D/Q | 0.5121 | ambiguous | 0.5955 | pathogenic | 0.139 | Stabilizing | 1.0 | D | 0.565 | neutral | None | None | None | None | N |
| D/R | 0.6387 | likely_pathogenic | 0.7472 | pathogenic | 0.604 | Stabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| D/S | 0.1941 | likely_benign | 0.2392 | benign | 0.045 | Stabilizing | 1.0 | D | 0.54 | neutral | None | None | None | None | N |
| D/T | 0.3923 | ambiguous | 0.4567 | ambiguous | 0.143 | Stabilizing | 1.0 | D | 0.587 | neutral | None | None | None | None | N |
| D/V | 0.5203 | ambiguous | 0.6156 | pathogenic | 0.116 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.514673279 | None | None | N |
| D/W | 0.9084 | likely_pathogenic | 0.9409 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/Y | 0.3831 | ambiguous | 0.4685 | ambiguous | 0.058 | Stabilizing | 1.0 | D | 0.673 | neutral | N | 0.480019746 | 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.