Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7059 | 21400;21401;21402 | chr2:178724084;178724083;178724082 | chr2:179588811;179588810;179588809 |
| N2AB | 6742 | 20449;20450;20451 | chr2:178724084;178724083;178724082 | chr2:179588811;179588810;179588809 |
| N2A | 5815 | 17668;17669;17670 | chr2:178724084;178724083;178724082 | chr2:179588811;179588810;179588809 |
| 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 | rs755126766  |
-0.428 | None | N | 0.102 | 0.064 | 0.0297737177859 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| A/T | rs755126766 |
-0.428 | None | N | 0.102 | 0.064 | 0.0297737177859 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs755126766 |
-0.428 | None | N | 0.102 | 0.064 | 0.0297737177859 | gnomAD-4.0.0 | 4.95901E-06 | None | None | None | None | N | None | 1.33529E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93447E-06 | 0 | 0 |
| A/V | rs2078912559 |
None | 0.012 | N | 0.311 | 0.127 | 0.28492961333 | gnomAD-4.0.0 | 6.36904E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11056E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3364 | likely_benign | 0.3164 | benign | -0.8 | Destabilizing | 0.356 | N | 0.428 | neutral | None | None | None | None | N |
| A/D | 0.1285 | likely_benign | 0.1198 | benign | -0.024 | Destabilizing | 0.024 | N | 0.367 | neutral | N | 0.42588278 | None | None | N |
| A/E | 0.1364 | likely_benign | 0.1293 | benign | -0.161 | Destabilizing | 0.016 | N | 0.398 | neutral | None | None | None | None | N |
| A/F | 0.1934 | likely_benign | 0.1749 | benign | -0.829 | Destabilizing | 0.356 | N | 0.473 | neutral | None | None | None | None | N |
| A/G | 0.0877 | likely_benign | 0.0811 | benign | -0.346 | Destabilizing | 0.005 | N | 0.291 | neutral | N | 0.439121436 | None | None | N |
| A/H | 0.2573 | likely_benign | 0.238 | benign | -0.386 | Destabilizing | 0.356 | N | 0.449 | neutral | None | None | None | None | N |
| A/I | 0.1661 | likely_benign | 0.1525 | benign | -0.29 | Destabilizing | 0.038 | N | 0.441 | neutral | None | None | None | None | N |
| A/K | 0.2166 | likely_benign | 0.1971 | benign | -0.445 | Destabilizing | None | N | 0.162 | neutral | None | None | None | None | N |
| A/L | 0.1257 | likely_benign | 0.1178 | benign | -0.29 | Destabilizing | 0.016 | N | 0.4 | neutral | None | None | None | None | N |
| A/M | 0.1491 | likely_benign | 0.1372 | benign | -0.335 | Destabilizing | 0.356 | N | 0.449 | neutral | None | None | None | None | N |
| A/N | 0.1171 | likely_benign | 0.1063 | benign | -0.19 | Destabilizing | 0.016 | N | 0.369 | neutral | None | None | None | None | N |
| A/P | 0.2916 | likely_benign | 0.2695 | benign | -0.252 | Destabilizing | 0.106 | N | 0.449 | neutral | N | 0.454602477 | None | None | N |
| A/Q | 0.1918 | likely_benign | 0.1799 | benign | -0.429 | Destabilizing | 0.072 | N | 0.437 | neutral | None | None | None | None | N |
| A/R | 0.1981 | likely_benign | 0.1777 | benign | -0.092 | Destabilizing | 0.038 | N | 0.428 | neutral | None | None | None | None | N |
| A/S | 0.0613 | likely_benign | 0.0585 | benign | -0.485 | Destabilizing | None | N | 0.1 | neutral | N | 0.346576634 | None | None | N |
| A/T | 0.0616 | likely_benign | 0.0592 | benign | -0.531 | Destabilizing | None | N | 0.102 | neutral | N | 0.421402467 | None | None | N |
| A/V | 0.0994 | likely_benign | 0.0956 | benign | -0.252 | Destabilizing | 0.012 | N | 0.311 | neutral | N | 0.491667842 | None | None | N |
| A/W | 0.5007 | ambiguous | 0.4674 | ambiguous | -0.964 | Destabilizing | 0.864 | D | 0.453 | neutral | None | None | None | None | N |
| A/Y | 0.2562 | likely_benign | 0.2333 | benign | -0.595 | Destabilizing | 0.356 | N | 0.465 | 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.