Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7111 | 21556;21557;21558 | chr2:178723928;178723927;178723926 | chr2:179588655;179588654;179588653 |
| N2AB | 6794 | 20605;20606;20607 | chr2:178723928;178723927;178723926 | chr2:179588655;179588654;179588653 |
| N2A | 5867 | 17824;17825;17826 | chr2:178723928;178723927;178723926 | chr2:179588655;179588654;179588653 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/L | rs1283834442  |
-0.393 | 0.004 | N | 0.102 | 0.172 | 0.482500522706 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/L | rs1283834442 |
-0.393 | 0.004 | N | 0.102 | 0.172 | 0.482500522706 | gnomAD-4.0.0 | 6.84334E-07 | None | None | None | None | N | None | 0 | 2.23674E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs374408615 |
-0.212 | None | N | 0.104 | 0.09 | None | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.26E-05 | 0 |
| M/T | rs374408615 |
-0.212 | None | N | 0.104 | 0.09 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| M/T | rs374408615 |
-0.212 | None | N | 0.104 | 0.09 | None | gnomAD-4.0.0 | 3.40884E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23874E-05 | 0 | 8.00769E-05 |
| M/V | None | None | 0.004 | N | 0.157 | 0.151 | 0.335414705075 | gnomAD-4.0.0 | 6.84334E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99619E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.1032 | likely_benign | 0.0931 | benign | -1.703 | Destabilizing | 0.016 | N | 0.187 | neutral | None | None | None | None | N |
| M/C | 0.5748 | likely_pathogenic | 0.523 | ambiguous | -1.143 | Destabilizing | 0.901 | D | 0.461 | neutral | None | None | None | None | N |
| M/D | 0.3971 | ambiguous | 0.3487 | ambiguous | -0.476 | Destabilizing | 0.148 | N | 0.326 | neutral | None | None | None | None | N |
| M/E | 0.1581 | likely_benign | 0.1472 | benign | -0.465 | Destabilizing | 0.148 | N | 0.295 | neutral | None | None | None | None | N |
| M/F | 0.2498 | likely_benign | 0.2253 | benign | -0.896 | Destabilizing | 0.296 | N | 0.37 | neutral | None | None | None | None | N |
| M/G | 0.2142 | likely_benign | 0.1984 | benign | -1.998 | Destabilizing | None | N | 0.242 | neutral | None | None | None | None | N |
| M/H | 0.2854 | likely_benign | 0.2616 | benign | -1.068 | Destabilizing | 0.901 | D | 0.505 | neutral | None | None | None | None | N |
| M/I | 0.1544 | likely_benign | 0.14 | benign | -0.953 | Destabilizing | None | N | 0.047 | neutral | N | 0.501640559 | None | None | N |
| M/K | 0.086 | likely_benign | 0.0841 | benign | -0.398 | Destabilizing | 0.116 | N | 0.333 | neutral | N | 0.502331205 | None | None | N |
| M/L | 0.0986 | likely_benign | 0.0949 | benign | -0.953 | Destabilizing | 0.004 | N | 0.102 | neutral | N | 0.506411661 | None | None | N |
| M/N | 0.2156 | likely_benign | 0.1827 | benign | -0.231 | Destabilizing | 0.148 | N | 0.325 | neutral | None | None | None | None | N |
| M/P | 0.4661 | ambiguous | 0.4136 | ambiguous | -1.176 | Destabilizing | 0.26 | N | 0.455 | neutral | None | None | None | None | N |
| M/Q | 0.1233 | likely_benign | 0.1185 | benign | -0.354 | Destabilizing | 0.46 | N | 0.366 | neutral | None | None | None | None | N |
| M/R | 0.0749 | likely_benign | 0.0711 | benign | 0.076 | Stabilizing | 0.116 | N | 0.455 | neutral | N | 0.48128393 | None | None | N |
| M/S | 0.1245 | likely_benign | 0.1074 | benign | -0.855 | Destabilizing | 0.001 | N | 0.105 | neutral | None | None | None | None | N |
| M/T | 0.0577 | likely_benign | 0.0544 | benign | -0.732 | Destabilizing | None | N | 0.104 | neutral | N | 0.412789423 | None | None | N |
| M/V | 0.0671 | likely_benign | 0.0662 | benign | -1.176 | Destabilizing | 0.004 | N | 0.157 | neutral | N | 0.465930475 | None | None | N |
| M/W | 0.4599 | ambiguous | 0.4399 | ambiguous | -0.805 | Destabilizing | 0.901 | D | 0.46 | neutral | None | None | None | None | N |
| M/Y | 0.4206 | ambiguous | 0.383 | ambiguous | -0.801 | Destabilizing | 0.46 | N | 0.513 | 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.