Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6728 | 20407;20408;20409 | chr2:178727183;178727182;178727181 | chr2:179591910;179591909;179591908 |
| N2AB | 6411 | 19456;19457;19458 | chr2:178727183;178727182;178727181 | chr2:179591910;179591909;179591908 |
| N2A | 5484 | 16675;16676;16677 | chr2:178727183;178727182;178727181 | chr2:179591910;179591909;179591908 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs969621252  |
-1.08 | 0.784 | N | 0.279 | 0.139 | 0.295974979623 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.99561E-04 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs969621252 |
-1.08 | 0.784 | N | 0.279 | 0.139 | 0.295974979623 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88018E-04 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/D | rs969621252 |
-1.08 | 0.784 | N | 0.279 | 0.139 | 0.295974979623 | gnomAD-4.0.0 | 1.11581E-05 | None | None | None | None | N | None | 0 | 0 | None | 2.70508E-04 | 0 | None | 0 | 0 | 6.78276E-06 | 1.09864E-05 | 1.60174E-05 |
| N/H | rs969621252 |
-1.016 | 0.927 | N | 0.409 | 0.228 | 0.332133492242 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| N/H | rs969621252 |
-1.016 | 0.927 | N | 0.409 | 0.228 | 0.332133492242 | gnomAD-4.0.0 | 4.79108E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39829E-06 | 0 | 1.65728E-05 |
| N/K | rs745322652 |
None | 0.27 | N | 0.257 | 0.192 | 0.203808441222 | gnomAD-4.0.0 | 6.84452E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99735E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.21 | likely_benign | 0.1979 | benign | -0.592 | Destabilizing | 0.495 | N | 0.375 | neutral | None | None | None | None | N |
| N/C | 0.3351 | likely_benign | 0.3312 | benign | 0.067 | Stabilizing | 0.995 | D | 0.485 | neutral | None | None | None | None | N |
| N/D | 0.1066 | likely_benign | 0.1128 | benign | -1.074 | Destabilizing | 0.784 | D | 0.279 | neutral | N | 0.499560259 | None | None | N |
| N/E | 0.2318 | likely_benign | 0.2418 | benign | -0.989 | Destabilizing | 0.704 | D | 0.255 | neutral | None | None | None | None | N |
| N/F | 0.4053 | ambiguous | 0.3789 | ambiguous | -0.547 | Destabilizing | 0.944 | D | 0.517 | neutral | None | None | None | None | N |
| N/G | 0.2667 | likely_benign | 0.2548 | benign | -0.91 | Destabilizing | 0.665 | D | 0.267 | neutral | None | None | None | None | N |
| N/H | 0.0879 | likely_benign | 0.0861 | benign | -0.82 | Destabilizing | 0.927 | D | 0.409 | neutral | N | 0.47185637 | None | None | N |
| N/I | 0.1954 | likely_benign | 0.1907 | benign | 0.203 | Stabilizing | 0.473 | N | 0.495 | neutral | N | 0.517820733 | None | None | N |
| N/K | 0.2062 | likely_benign | 0.2152 | benign | -0.136 | Destabilizing | 0.27 | N | 0.257 | neutral | N | 0.484590807 | None | None | N |
| N/L | 0.226 | likely_benign | 0.2172 | benign | 0.203 | Stabilizing | 0.329 | N | 0.414 | neutral | None | None | None | None | N |
| N/M | 0.2777 | likely_benign | 0.2645 | benign | 0.785 | Stabilizing | 0.176 | N | 0.299 | neutral | None | None | None | None | N |
| N/P | 0.6377 | likely_pathogenic | 0.6612 | pathogenic | -0.032 | Destabilizing | 0.981 | D | 0.477 | neutral | None | None | None | None | N |
| N/Q | 0.2206 | likely_benign | 0.2121 | benign | -0.924 | Destabilizing | 0.704 | D | 0.359 | neutral | None | None | None | None | N |
| N/R | 0.2155 | likely_benign | 0.2233 | benign | -0.115 | Destabilizing | 0.007 | N | 0.168 | neutral | None | None | None | None | N |
| N/S | 0.0975 | likely_benign | 0.0961 | benign | -0.758 | Destabilizing | 0.27 | N | 0.299 | neutral | N | 0.43252719 | None | None | N |
| N/T | 0.1224 | likely_benign | 0.1179 | benign | -0.496 | Destabilizing | 0.023 | N | 0.074 | neutral | N | 0.470008143 | None | None | N |
| N/V | 0.2122 | likely_benign | 0.2024 | benign | -0.032 | Destabilizing | 0.031 | N | 0.3 | neutral | None | None | None | None | N |
| N/W | 0.5928 | likely_pathogenic | 0.5884 | pathogenic | -0.388 | Destabilizing | 0.995 | D | 0.519 | neutral | None | None | None | None | N |
| N/Y | 0.1172 | likely_benign | 0.1155 | benign | -0.101 | Destabilizing | 0.975 | D | 0.495 | neutral | D | 0.532288753 | 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.