Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28693 | 86302;86303;86304 | chr2:178560055;178560054;178560053 | chr2:179424782;179424781;179424780 |
| N2AB | 27052 | 81379;81380;81381 | chr2:178560055;178560054;178560053 | chr2:179424782;179424781;179424780 |
| N2A | 26125 | 78598;78599;78600 | chr2:178560055;178560054;178560053 | chr2:179424782;179424781;179424780 |
| N2B | 19628 | 59107;59108;59109 | chr2:178560055;178560054;178560053 | chr2:179424782;179424781;179424780 |
| Novex-1 | 19753 | 59482;59483;59484 | chr2:178560055;178560054;178560053 | chr2:179424782;179424781;179424780 |
| Novex-2 | 19820 | 59683;59684;59685 | chr2:178560055;178560054;178560053 | chr2:179424782;179424781;179424780 |
| 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/C | rs893693576  |
None | 0.896 | N | 0.475 | 0.276 | 0.318252033908 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/C | rs893693576 |
None | 0.896 | N | 0.475 | 0.276 | 0.318252033908 | gnomAD-4.0.0 | 5.57772E-06 | None | None | None | None | N | None | 1.20141E-04 | 0 | 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 | 0.0655 | likely_benign | 0.0642 | benign | -0.592 | Destabilizing | 0.002 | N | 0.135 | neutral | N | 0.444290474 | None | None | N |
| S/C | 0.1079 | likely_benign | 0.0973 | benign | -0.452 | Destabilizing | 0.896 | D | 0.475 | neutral | N | 0.503704137 | None | None | N |
| S/D | 0.333 | likely_benign | 0.3064 | benign | -0.33 | Destabilizing | 0.617 | D | 0.373 | neutral | None | None | None | None | N |
| S/E | 0.3298 | likely_benign | 0.3322 | benign | -0.34 | Destabilizing | 0.617 | D | 0.349 | neutral | None | None | None | None | N |
| S/F | 0.2296 | likely_benign | 0.2115 | benign | -0.713 | Destabilizing | 0.896 | D | 0.575 | neutral | N | 0.515692 | None | None | N |
| S/G | 0.077 | likely_benign | 0.073 | benign | -0.84 | Destabilizing | 0.25 | N | 0.371 | neutral | None | None | None | None | N |
| S/H | 0.2917 | likely_benign | 0.2828 | benign | -1.317 | Destabilizing | 0.972 | D | 0.476 | neutral | None | None | None | None | N |
| S/I | 0.119 | likely_benign | 0.113 | benign | -0.043 | Destabilizing | 0.447 | N | 0.54 | neutral | None | None | None | None | N |
| S/K | 0.3347 | likely_benign | 0.3444 | ambiguous | -0.804 | Destabilizing | 0.617 | D | 0.348 | neutral | None | None | None | None | N |
| S/L | 0.0813 | likely_benign | 0.0775 | benign | -0.043 | Destabilizing | 0.25 | N | 0.543 | neutral | None | None | None | None | N |
| S/M | 0.1358 | likely_benign | 0.1293 | benign | 0.183 | Stabilizing | 0.92 | D | 0.482 | neutral | None | None | None | None | N |
| S/N | 0.1064 | likely_benign | 0.0942 | benign | -0.729 | Destabilizing | 0.617 | D | 0.4 | neutral | None | None | None | None | N |
| S/P | 0.1585 | likely_benign | 0.1627 | benign | -0.192 | Destabilizing | 0.712 | D | 0.453 | neutral | N | 0.479443198 | None | None | N |
| S/Q | 0.3311 | likely_benign | 0.3302 | benign | -0.879 | Destabilizing | 0.92 | D | 0.417 | neutral | None | None | None | None | N |
| S/R | 0.3242 | likely_benign | 0.3227 | benign | -0.659 | Destabilizing | 0.617 | D | 0.439 | neutral | None | None | None | None | N |
| S/T | 0.0677 | likely_benign | 0.0624 | benign | -0.726 | Destabilizing | 0.001 | N | 0.151 | neutral | N | 0.43145725 | None | None | N |
| S/V | 0.1302 | likely_benign | 0.1238 | benign | -0.192 | Destabilizing | 0.25 | N | 0.543 | neutral | None | None | None | None | N |
| S/W | 0.3325 | likely_benign | 0.319 | benign | -0.722 | Destabilizing | 0.992 | D | 0.603 | neutral | None | None | None | None | N |
| S/Y | 0.1859 | likely_benign | 0.1759 | benign | -0.467 | Destabilizing | 0.896 | D | 0.583 | neutral | N | 0.472395969 | 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.