Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30752 | 92479;92480;92481 | chr2:178549372;178549371;178549370 | chr2:179414099;179414098;179414097 |
| N2AB | 29111 | 87556;87557;87558 | chr2:178549372;178549371;178549370 | chr2:179414099;179414098;179414097 |
| N2A | 28184 | 84775;84776;84777 | chr2:178549372;178549371;178549370 | chr2:179414099;179414098;179414097 |
| N2B | 21687 | 65284;65285;65286 | chr2:178549372;178549371;178549370 | chr2:179414099;179414098;179414097 |
| Novex-1 | 21812 | 65659;65660;65661 | chr2:178549372;178549371;178549370 | chr2:179414099;179414098;179414097 |
| Novex-2 | 21879 | 65860;65861;65862 | chr2:178549372;178549371;178549370 | chr2:179414099;179414098;179414097 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs1466048751  |
None | 0.047 | N | 0.128 | 0.074 | 0.15556083564 | gnomAD-4.0.0 | 2.05263E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79893E-06 | 0 | 1.65656E-05 |
| Q/H | rs1485098760 |
-0.491 | 0.794 | N | 0.251 | 0.086 | 0.284539287134 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/K | rs1466048751 |
None | None | N | 0.041 | 0.105 | 0.136095386433 | gnomAD-4.0.0 | 6.84211E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99467E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1891 | likely_benign | 0.1758 | benign | -0.302 | Destabilizing | 0.061 | N | 0.149 | neutral | None | None | None | None | I |
| Q/C | 0.4237 | ambiguous | 0.3892 | ambiguous | 0.211 | Stabilizing | 0.983 | D | 0.285 | neutral | None | None | None | None | I |
| Q/D | 0.3055 | likely_benign | 0.2919 | benign | -0.29 | Destabilizing | 0.001 | N | 0.064 | neutral | None | None | None | None | I |
| Q/E | 0.0879 | likely_benign | 0.0853 | benign | -0.302 | Destabilizing | 0.047 | N | 0.128 | neutral | N | 0.405425442 | None | None | I |
| Q/F | 0.5225 | ambiguous | 0.4909 | ambiguous | -0.35 | Destabilizing | 0.94 | D | 0.373 | neutral | None | None | None | None | I |
| Q/G | 0.1992 | likely_benign | 0.1845 | benign | -0.536 | Destabilizing | 0.061 | N | 0.225 | neutral | None | None | None | None | I |
| Q/H | 0.1378 | likely_benign | 0.1335 | benign | -0.474 | Destabilizing | 0.794 | D | 0.251 | neutral | N | 0.512304978 | None | None | I |
| Q/I | 0.2762 | likely_benign | 0.2665 | benign | 0.24 | Stabilizing | 0.418 | N | 0.431 | neutral | None | None | None | None | I |
| Q/K | 0.0739 | likely_benign | 0.0697 | benign | -0.121 | Destabilizing | None | N | 0.041 | neutral | N | 0.405060083 | None | None | I |
| Q/L | 0.0939 | likely_benign | 0.0891 | benign | 0.24 | Stabilizing | 0.183 | N | 0.235 | neutral | N | 0.373121022 | None | None | I |
| Q/M | 0.2845 | likely_benign | 0.2754 | benign | 0.604 | Stabilizing | 0.94 | D | 0.255 | neutral | None | None | None | None | I |
| Q/N | 0.1917 | likely_benign | 0.1986 | benign | -0.399 | Destabilizing | 0.001 | N | 0.084 | neutral | None | None | None | None | I |
| Q/P | 0.3004 | likely_benign | 0.3062 | benign | 0.089 | Stabilizing | 0.523 | D | 0.315 | neutral | N | 0.470154244 | None | None | I |
| Q/R | 0.0811 | likely_benign | 0.0742 | benign | 0.071 | Stabilizing | 0.101 | N | 0.246 | neutral | N | 0.404598723 | None | None | I |
| Q/S | 0.171 | likely_benign | 0.1667 | benign | -0.408 | Destabilizing | 0.061 | N | 0.106 | neutral | None | None | None | None | I |
| Q/T | 0.1346 | likely_benign | 0.1312 | benign | -0.263 | Destabilizing | 0.004 | N | 0.101 | neutral | None | None | None | None | I |
| Q/V | 0.1957 | likely_benign | 0.1832 | benign | 0.089 | Stabilizing | 0.228 | N | 0.241 | neutral | None | None | None | None | I |
| Q/W | 0.3966 | ambiguous | 0.3656 | ambiguous | -0.29 | Destabilizing | 0.983 | D | 0.287 | neutral | None | None | None | None | I |
| Q/Y | 0.3221 | likely_benign | 0.3023 | benign | -0.068 | Destabilizing | 0.94 | D | 0.369 | neutral | None | None | None | None | I |
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.