Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27613 | 83062;83063;83064 | chr2:178563295;178563294;178563293 | chr2:179428022;179428021;179428020 |
| N2AB | 25972 | 78139;78140;78141 | chr2:178563295;178563294;178563293 | chr2:179428022;179428021;179428020 |
| N2A | 25045 | 75358;75359;75360 | chr2:178563295;178563294;178563293 | chr2:179428022;179428021;179428020 |
| N2B | 18548 | 55867;55868;55869 | chr2:178563295;178563294;178563293 | chr2:179428022;179428021;179428020 |
| Novex-1 | 18673 | 56242;56243;56244 | chr2:178563295;178563294;178563293 | chr2:179428022;179428021;179428020 |
| Novex-2 | 18740 | 56443;56444;56445 | chr2:178563295;178563294;178563293 | chr2:179428022;179428021;179428020 |
| 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/S | None | None | None | N | 0.151 | 0.089 | 0.0401082797425 | gnomAD-4.0.0 | 6.15833E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09564E-06 | 0 | 0 |
| A/V | rs751779815  |
-0.005 | 0.062 | N | 0.246 | 0.082 | 0.244539031024 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs751779815 |
-0.005 | 0.062 | N | 0.246 | 0.082 | 0.244539031024 | gnomAD-4.0.0 | 1.59156E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 | 0.2981 | likely_benign | 0.3109 | benign | -0.732 | Destabilizing | 0.824 | D | 0.284 | neutral | None | None | None | None | N |
| A/D | 0.1228 | likely_benign | 0.1158 | benign | -0.661 | Destabilizing | 0.062 | N | 0.354 | neutral | N | 0.383681946 | None | None | N |
| A/E | 0.131 | likely_benign | 0.1202 | benign | -0.823 | Destabilizing | 0.081 | N | 0.295 | neutral | None | None | None | None | N |
| A/F | 0.1998 | likely_benign | 0.2075 | benign | -0.918 | Destabilizing | 0.555 | D | 0.397 | neutral | None | None | None | None | N |
| A/G | 0.0888 | likely_benign | 0.0895 | benign | -0.185 | Destabilizing | None | N | 0.134 | neutral | N | 0.404633221 | None | None | N |
| A/H | 0.2525 | likely_benign | 0.2434 | benign | -0.209 | Destabilizing | 0.555 | D | 0.39 | neutral | None | None | None | None | N |
| A/I | 0.1267 | likely_benign | 0.1403 | benign | -0.362 | Destabilizing | 0.235 | N | 0.329 | neutral | None | None | None | None | N |
| A/K | 0.217 | likely_benign | 0.1936 | benign | -0.563 | Destabilizing | 0.081 | N | 0.291 | neutral | None | None | None | None | N |
| A/L | 0.0981 | likely_benign | 0.0982 | benign | -0.362 | Destabilizing | 0.081 | N | 0.317 | neutral | None | None | None | None | N |
| A/M | 0.115 | likely_benign | 0.1188 | benign | -0.465 | Destabilizing | 0.824 | D | 0.319 | neutral | None | None | None | None | N |
| A/N | 0.1026 | likely_benign | 0.1071 | benign | -0.211 | Destabilizing | 0.002 | N | 0.306 | neutral | None | None | None | None | N |
| A/P | 0.1583 | likely_benign | 0.1429 | benign | -0.275 | Destabilizing | 0.317 | N | 0.33 | neutral | N | 0.474074664 | None | None | N |
| A/Q | 0.1854 | likely_benign | 0.1748 | benign | -0.515 | Destabilizing | 0.38 | N | 0.335 | neutral | None | None | None | None | N |
| A/R | 0.2381 | likely_benign | 0.2084 | benign | -0.08 | Destabilizing | 0.38 | N | 0.329 | neutral | None | None | None | None | N |
| A/S | 0.0716 | likely_benign | 0.0726 | benign | -0.357 | Destabilizing | None | N | 0.151 | neutral | N | 0.403115856 | None | None | N |
| A/T | 0.0613 | likely_benign | 0.062 | benign | -0.452 | Destabilizing | None | N | 0.149 | neutral | N | 0.444674476 | None | None | N |
| A/V | 0.0862 | likely_benign | 0.0914 | benign | -0.275 | Destabilizing | 0.062 | N | 0.246 | neutral | N | 0.478672407 | None | None | N |
| A/W | 0.505 | ambiguous | 0.4955 | ambiguous | -1.03 | Destabilizing | 0.935 | D | 0.445 | neutral | None | None | None | None | N |
| A/Y | 0.2942 | likely_benign | 0.2936 | benign | -0.699 | Destabilizing | 0.555 | D | 0.396 | 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.