Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7860 | 23803;23804;23805 | chr2:178720064;178720063;178720062 | chr2:179584791;179584790;179584789 |
| N2AB | 7543 | 22852;22853;22854 | chr2:178720064;178720063;178720062 | chr2:179584791;179584790;179584789 |
| N2A | 6616 | 20071;20072;20073 | chr2:178720064;178720063;178720062 | chr2:179584791;179584790;179584789 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs138076523  |
-0.242 | 0.051 | N | 0.225 | 0.043 | None | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 9.95E-05 | 3.3415E-04 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/T | rs138076523 |
-0.242 | 0.051 | N | 0.225 | 0.043 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.34979E-03 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs138076523 |
-0.242 | 0.051 | N | 0.225 | 0.043 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| A/T | rs138076523 |
-0.242 | 0.051 | N | 0.225 | 0.043 | None | gnomAD-4.0.0 | 7.25073E-05 | None | None | None | None | N | None | 0 | 3.33311E-05 | None | 3.37883E-05 | 2.49666E-03 | None | 0 | 0 | 1.69538E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5767 | likely_pathogenic | 0.4897 | ambiguous | -0.787 | Destabilizing | 0.998 | D | 0.304 | neutral | None | None | None | None | N |
| A/D | 0.1842 | likely_benign | 0.1558 | benign | -0.376 | Destabilizing | 0.842 | D | 0.37 | neutral | None | None | None | None | N |
| A/E | 0.1641 | likely_benign | 0.1385 | benign | -0.529 | Destabilizing | 0.801 | D | 0.315 | neutral | N | 0.463769164 | None | None | N |
| A/F | 0.2223 | likely_benign | 0.1885 | benign | -0.912 | Destabilizing | 0.974 | D | 0.379 | neutral | None | None | None | None | N |
| A/G | 0.1153 | likely_benign | 0.1035 | benign | -0.338 | Destabilizing | 0.012 | N | 0.16 | neutral | N | 0.456768524 | None | None | N |
| A/H | 0.3805 | ambiguous | 0.3202 | benign | -0.366 | Destabilizing | 0.998 | D | 0.363 | neutral | None | None | None | None | N |
| A/I | 0.1346 | likely_benign | 0.1202 | benign | -0.349 | Destabilizing | 0.728 | D | 0.264 | neutral | None | None | None | None | N |
| A/K | 0.2884 | likely_benign | 0.2359 | benign | -0.568 | Destabilizing | 0.842 | D | 0.311 | neutral | None | None | None | None | N |
| A/L | 0.1211 | likely_benign | 0.1051 | benign | -0.349 | Destabilizing | 0.525 | D | 0.27 | neutral | None | None | None | None | N |
| A/M | 0.1662 | likely_benign | 0.1478 | benign | -0.368 | Destabilizing | 0.974 | D | 0.291 | neutral | None | None | None | None | N |
| A/N | 0.1804 | likely_benign | 0.1497 | benign | -0.264 | Destabilizing | 0.949 | D | 0.385 | neutral | None | None | None | None | N |
| A/P | 0.097 | likely_benign | 0.0842 | benign | -0.295 | Destabilizing | 0.966 | D | 0.311 | neutral | N | 0.388906046 | None | None | N |
| A/Q | 0.2566 | likely_benign | 0.2136 | benign | -0.546 | Destabilizing | 0.974 | D | 0.306 | neutral | None | None | None | None | N |
| A/R | 0.2779 | likely_benign | 0.2328 | benign | -0.115 | Destabilizing | 0.949 | D | 0.321 | neutral | None | None | None | None | N |
| A/S | 0.0937 | likely_benign | 0.0851 | benign | -0.49 | Destabilizing | 0.022 | N | 0.143 | neutral | N | 0.441663096 | None | None | N |
| A/T | 0.0808 | likely_benign | 0.0774 | benign | -0.56 | Destabilizing | 0.051 | N | 0.225 | neutral | N | 0.463211804 | None | None | N |
| A/V | 0.0863 | likely_benign | 0.0813 | benign | -0.295 | Destabilizing | 0.051 | N | 0.151 | neutral | N | 0.433158256 | None | None | N |
| A/W | 0.6028 | likely_pathogenic | 0.5202 | ambiguous | -1.037 | Destabilizing | 0.998 | D | 0.474 | neutral | None | None | None | None | N |
| A/Y | 0.3226 | likely_benign | 0.2665 | benign | -0.684 | Destabilizing | 0.991 | D | 0.371 | neutral | 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.