Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28061 | 84406;84407;84408 | chr2:178561951;178561950;178561949 | chr2:179426678;179426677;179426676 |
| N2AB | 26420 | 79483;79484;79485 | chr2:178561951;178561950;178561949 | chr2:179426678;179426677;179426676 |
| N2A | 25493 | 76702;76703;76704 | chr2:178561951;178561950;178561949 | chr2:179426678;179426677;179426676 |
| N2B | 18996 | 57211;57212;57213 | chr2:178561951;178561950;178561949 | chr2:179426678;179426677;179426676 |
| Novex-1 | 19121 | 57586;57587;57588 | chr2:178561951;178561950;178561949 | chr2:179426678;179426677;179426676 |
| Novex-2 | 19188 | 57787;57788;57789 | chr2:178561951;178561950;178561949 | chr2:179426678;179426677;179426676 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 0.183 | N | 0.256 | 0.174 | 0.495773158881 | gnomAD-4.0.0 | 1.36899E-06 | None | None | None | None | N | None | 2.98936E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99768E-07 | 0 | 0 |
| P/S | rs373806358  |
None | 0.047 | N | 0.233 | 0.108 | 0.26169431596 | gnomAD-4.0.0 | 1.36898E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52717E-05 | None | 0 | 0 | 0 | 0 | 1.65755E-05 |
| P/T | rs373806358 |
-0.117 | 0.183 | N | 0.284 | 0.147 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs373806358 |
-0.117 | 0.183 | N | 0.284 | 0.147 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs373806358 |
-0.117 | 0.183 | N | 0.284 | 0.147 | None | gnomAD-4.0.0 | 3.7196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.2393E-06 | 0 | 1.602E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0989 | likely_benign | 0.0897 | benign | -0.594 | Destabilizing | None | N | 0.101 | neutral | N | 0.512014189 | None | None | N |
| P/C | 0.4005 | ambiguous | 0.3716 | ambiguous | -0.652 | Destabilizing | 0.951 | D | 0.279 | neutral | None | None | None | None | N |
| P/D | 0.2738 | likely_benign | 0.2467 | benign | -0.229 | Destabilizing | 0.001 | N | 0.119 | neutral | None | None | None | None | N |
| P/E | 0.222 | likely_benign | 0.1952 | benign | -0.339 | Destabilizing | 0.004 | N | 0.117 | neutral | None | None | None | None | N |
| P/F | 0.4048 | ambiguous | 0.3535 | ambiguous | -0.745 | Destabilizing | 0.836 | D | 0.323 | neutral | None | None | None | None | N |
| P/G | 0.3005 | likely_benign | 0.2781 | benign | -0.742 | Destabilizing | 0.061 | N | 0.233 | neutral | None | None | None | None | N |
| P/H | 0.1951 | likely_benign | 0.168 | benign | -0.287 | Destabilizing | 0.794 | D | 0.317 | neutral | N | 0.50977934 | None | None | N |
| P/I | 0.2949 | likely_benign | 0.2415 | benign | -0.353 | Destabilizing | 0.418 | N | 0.419 | neutral | None | None | None | None | N |
| P/K | 0.2563 | likely_benign | 0.1998 | benign | -0.469 | Destabilizing | 0.129 | N | 0.312 | neutral | None | None | None | None | N |
| P/L | 0.1449 | likely_benign | 0.1228 | benign | -0.353 | Destabilizing | 0.183 | N | 0.256 | neutral | N | 0.50005565 | None | None | N |
| P/M | 0.2839 | likely_benign | 0.24 | benign | -0.35 | Destabilizing | 0.836 | D | 0.3 | neutral | None | None | None | None | N |
| P/N | 0.2285 | likely_benign | 0.2044 | benign | -0.198 | Destabilizing | 0.001 | N | 0.138 | neutral | None | None | None | None | N |
| P/Q | 0.1625 | likely_benign | 0.1392 | benign | -0.453 | Destabilizing | 0.01 | N | 0.171 | neutral | None | None | None | None | N |
| P/R | 0.2083 | likely_benign | 0.1702 | benign | 0.054 | Stabilizing | 0.213 | N | 0.307 | neutral | N | 0.470746447 | None | None | N |
| P/S | 0.138 | likely_benign | 0.1253 | benign | -0.603 | Destabilizing | 0.047 | N | 0.233 | neutral | N | 0.519806953 | None | None | N |
| P/T | 0.1147 | likely_benign | 0.1013 | benign | -0.611 | Destabilizing | 0.183 | N | 0.284 | neutral | N | 0.480470138 | None | None | N |
| P/V | 0.2102 | likely_benign | 0.1783 | benign | -0.397 | Destabilizing | 0.129 | N | 0.253 | neutral | None | None | None | None | N |
| P/W | 0.637 | likely_pathogenic | 0.583 | pathogenic | -0.803 | Destabilizing | 0.983 | D | 0.319 | neutral | None | None | None | None | N |
| P/Y | 0.3806 | ambiguous | 0.3365 | benign | -0.512 | Destabilizing | 0.836 | D | 0.369 | 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.