Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5128 | 15607;15608;15609 | chr2:178734442;178734441;178734440 | chr2:179599169;179599168;179599167 |
| N2AB | 4811 | 14656;14657;14658 | chr2:178734442;178734441;178734440 | chr2:179599169;179599168;179599167 |
| N2A | 3884 | 11875;11876;11877 | chr2:178734442;178734441;178734440 | chr2:179599169;179599168;179599167 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs750710170  |
-0.773 | 0.484 | N | 0.539 | 0.442 | 0.716185225888 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 1.15962E-04 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs750710170 |
-0.773 | 0.484 | N | 0.539 | 0.442 | 0.716185225888 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30993E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs750710170 |
-0.773 | 0.484 | N | 0.539 | 0.442 | 0.716185225888 | gnomAD-4.0.0 | 8.96925E-06 | None | None | None | None | N | None | 0 | 1.18648E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0746 | likely_benign | 0.0908 | benign | -0.371 | Destabilizing | None | N | 0.161 | neutral | D | 0.54502551 | None | None | N |
| S/C | 0.1249 | likely_benign | 0.1606 | benign | -0.338 | Destabilizing | 0.78 | D | 0.449 | neutral | D | 0.549619405 | None | None | N |
| S/D | 0.2388 | likely_benign | 0.3031 | benign | 0.595 | Stabilizing | 0.149 | N | 0.373 | neutral | None | None | None | None | N |
| S/E | 0.3468 | ambiguous | 0.4672 | ambiguous | 0.554 | Stabilizing | 0.149 | N | 0.314 | neutral | None | None | None | None | N |
| S/F | 0.1373 | likely_benign | 0.1684 | benign | -0.707 | Destabilizing | 0.484 | N | 0.539 | neutral | N | 0.517976675 | None | None | N |
| S/G | 0.0921 | likely_benign | 0.1028 | benign | -0.558 | Destabilizing | 0.035 | N | 0.293 | neutral | None | None | None | None | N |
| S/H | 0.2312 | likely_benign | 0.2833 | benign | -0.992 | Destabilizing | 0.935 | D | 0.449 | neutral | None | None | None | None | N |
| S/I | 0.179 | likely_benign | 0.2584 | benign | None | Stabilizing | 0.235 | N | 0.499 | neutral | None | None | None | None | N |
| S/K | 0.447 | ambiguous | 0.5851 | pathogenic | -0.343 | Destabilizing | 0.149 | N | 0.31 | neutral | None | None | None | None | N |
| S/L | 0.0942 | likely_benign | 0.1153 | benign | None | Stabilizing | 0.081 | N | 0.432 | neutral | None | None | None | None | N |
| S/M | 0.1565 | likely_benign | 0.1994 | benign | 0.031 | Stabilizing | 0.555 | D | 0.447 | neutral | None | None | None | None | N |
| S/N | 0.0991 | likely_benign | 0.1129 | benign | -0.197 | Destabilizing | 0.149 | N | 0.41 | neutral | None | None | None | None | N |
| S/P | 0.1924 | likely_benign | 0.263 | benign | -0.091 | Destabilizing | 0.484 | N | 0.441 | neutral | D | 0.629970262 | None | None | N |
| S/Q | 0.3353 | likely_benign | 0.4246 | ambiguous | -0.33 | Destabilizing | 0.555 | D | 0.441 | neutral | None | None | None | None | N |
| S/R | 0.4322 | ambiguous | 0.5344 | ambiguous | -0.278 | Destabilizing | 0.38 | N | 0.457 | neutral | None | None | None | None | N |
| S/T | 0.0778 | likely_benign | 0.0939 | benign | -0.306 | Destabilizing | None | N | 0.154 | neutral | N | 0.505316424 | None | None | N |
| S/V | 0.1645 | likely_benign | 0.2305 | benign | -0.091 | Destabilizing | 0.081 | N | 0.437 | neutral | None | None | None | None | N |
| S/W | 0.2378 | likely_benign | 0.282 | benign | -0.707 | Destabilizing | 0.935 | D | 0.588 | neutral | None | None | None | None | N |
| S/Y | 0.1071 | likely_benign | 0.122 | benign | -0.415 | Destabilizing | 0.484 | N | 0.533 | neutral | N | 0.515252094 | 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.