Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35215 | 105868;105869;105870 | chr2:178530972;178530971;178530970 | chr2:179395699;179395698;179395697 |
| N2AB | 33574 | 100945;100946;100947 | chr2:178530972;178530971;178530970 | chr2:179395699;179395698;179395697 |
| N2A | 32647 | 98164;98165;98166 | chr2:178530972;178530971;178530970 | chr2:179395699;179395698;179395697 |
| N2B | 26150 | 78673;78674;78675 | chr2:178530972;178530971;178530970 | chr2:179395699;179395698;179395697 |
| Novex-1 | 26275 | 79048;79049;79050 | chr2:178530972;178530971;178530970 | chr2:179395699;179395698;179395697 |
| Novex-2 | 26342 | 79249;79250;79251 | chr2:178530972;178530971;178530970 | chr2:179395699;179395698;179395697 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.9 | D | 0.519 | 0.3 | 0.33085137897 | gnomAD-4.0.0 | 6.84137E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99391E-07 | 0 | 0 |
| T/I | rs1340897756  |
-0.28 | 0.997 | N | 0.817 | 0.347 | 0.559658259148 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1340897756 |
-0.28 | 0.997 | N | 0.817 | 0.347 | 0.559658259148 | 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 |
| T/I | rs1340897756 |
-0.28 | 0.997 | N | 0.817 | 0.347 | 0.559658259148 | gnomAD-4.0.0 | 3.09811E-06 | None | None | None | None | N | None | 1.33476E-05 | 0 | None | 0 | 2.22757E-05 | None | 0 | 0 | 2.54257E-06 | 0 | 0 |
| T/P | rs769195414 |
-0.696 | 0.997 | N | 0.815 | 0.489 | 0.589254406313 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| T/P | rs769195414 |
-0.696 | 0.997 | N | 0.815 | 0.489 | 0.589254406313 | 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 |
| T/P | rs769195414 |
-0.696 | 0.997 | N | 0.815 | 0.489 | 0.589254406313 | gnomAD-4.0.0 | 5.57683E-06 | None | None | None | None | N | None | 0 | 1.66683E-05 | None | 0 | 0 | None | 0 | 0 | 6.78029E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1326 | likely_benign | 0.1153 | benign | -1.251 | Destabilizing | 0.9 | D | 0.519 | neutral | D | 0.532443469 | None | None | N |
| T/C | 0.5471 | ambiguous | 0.4809 | ambiguous | -0.708 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/D | 0.5928 | likely_pathogenic | 0.5527 | ambiguous | 0.053 | Stabilizing | 0.995 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/E | 0.4575 | ambiguous | 0.4177 | ambiguous | 0.12 | Stabilizing | 0.995 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/F | 0.2659 | likely_benign | 0.2506 | benign | -1.309 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| T/G | 0.461 | ambiguous | 0.4133 | ambiguous | -1.548 | Destabilizing | 0.983 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/H | 0.2592 | likely_benign | 0.2442 | benign | -1.668 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| T/I | 0.1757 | likely_benign | 0.1676 | benign | -0.523 | Destabilizing | 0.997 | D | 0.817 | deleterious | N | 0.51239627 | None | None | N |
| T/K | 0.248 | likely_benign | 0.2322 | benign | -0.429 | Destabilizing | 0.995 | D | 0.74 | deleterious | None | None | None | None | N |
| T/L | 0.1287 | likely_benign | 0.1192 | benign | -0.523 | Destabilizing | 0.992 | D | 0.651 | neutral | None | None | None | None | N |
| T/M | 0.1213 | likely_benign | 0.1136 | benign | -0.274 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| T/N | 0.2002 | likely_benign | 0.1765 | benign | -0.574 | Destabilizing | 0.994 | D | 0.682 | prob.neutral | N | 0.470682934 | None | None | N |
| T/P | 0.3227 | likely_benign | 0.282 | benign | -0.735 | Destabilizing | 0.997 | D | 0.815 | deleterious | N | 0.492190924 | None | None | N |
| T/Q | 0.2645 | likely_benign | 0.2404 | benign | -0.63 | Destabilizing | 0.998 | D | 0.822 | deleterious | None | None | None | None | N |
| T/R | 0.1865 | likely_benign | 0.1699 | benign | -0.351 | Destabilizing | 0.998 | D | 0.821 | deleterious | None | None | None | None | N |
| T/S | 0.1415 | likely_benign | 0.1236 | benign | -1.028 | Destabilizing | 0.63 | D | 0.237 | neutral | N | 0.470738862 | None | None | N |
| T/V | 0.1701 | likely_benign | 0.1597 | benign | -0.735 | Destabilizing | 0.992 | D | 0.591 | neutral | None | None | None | None | N |
| T/W | 0.6661 | likely_pathogenic | 0.6391 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| T/Y | 0.3652 | ambiguous | 0.3312 | benign | -0.916 | Destabilizing | 0.999 | D | 0.822 | deleterious | 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.