Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19829 | 59710;59711;59712 | chr2:178592520;178592519;178592518 | chr2:179457247;179457246;179457245 |
| N2AB | 18188 | 54787;54788;54789 | chr2:178592520;178592519;178592518 | chr2:179457247;179457246;179457245 |
| N2A | 17261 | 52006;52007;52008 | chr2:178592520;178592519;178592518 | chr2:179457247;179457246;179457245 |
| N2B | 10764 | 32515;32516;32517 | chr2:178592520;178592519;178592518 | chr2:179457247;179457246;179457245 |
| Novex-1 | 10889 | 32890;32891;32892 | chr2:178592520;178592519;178592518 | chr2:179457247;179457246;179457245 |
| Novex-2 | 10956 | 33091;33092;33093 | chr2:178592520;178592519;178592518 | chr2:179457247;179457246;179457245 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1436610603  |
-0.338 | 0.001 | N | 0.086 | 0.125 | 0.136095386433 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/A | rs1436610603 |
-0.338 | 0.001 | N | 0.086 | 0.125 | 0.136095386433 | gnomAD-4.0.0 | 1.36864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79919E-06 | 0 | 0 |
| T/I | rs754082474 |
0.049 | 0.001 | N | 0.203 | 0.179 | 0.328486982098 | 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 |
| T/I | rs754082474 |
0.049 | 0.001 | N | 0.203 | 0.179 | 0.328486982098 | gnomAD-4.0.0 | 3.18372E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8595E-06 | 1.4332E-05 | 0 |
| T/S | rs754082474 |
-0.371 | 0.042 | N | 0.221 | 0.114 | 0.139678290688 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/S | rs754082474 |
-0.371 | 0.042 | N | 0.221 | 0.114 | 0.139678290688 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| T/S | rs754082474 |
-0.371 | 0.042 | N | 0.221 | 0.114 | 0.139678290688 | gnomAD-4.0.0 | 6.57687E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0547 | likely_benign | 0.0525 | benign | -0.131 | Destabilizing | 0.001 | N | 0.086 | neutral | N | 0.420176756 | None | None | N |
| T/C | 0.2596 | likely_benign | 0.2533 | benign | -0.429 | Destabilizing | 0.958 | D | 0.377 | neutral | None | None | None | None | N |
| T/D | 0.175 | likely_benign | 0.176 | benign | -0.126 | Destabilizing | 0.124 | N | 0.31 | neutral | None | None | None | None | N |
| T/E | 0.135 | likely_benign | 0.14 | benign | -0.218 | Destabilizing | 0.22 | N | 0.314 | neutral | None | None | None | None | N |
| T/F | 0.1575 | likely_benign | 0.1506 | benign | -0.819 | Destabilizing | 0.497 | N | 0.402 | neutral | None | None | None | None | N |
| T/G | 0.1195 | likely_benign | 0.1163 | benign | -0.174 | Destabilizing | 0.055 | N | 0.335 | neutral | None | None | None | None | N |
| T/H | 0.1519 | likely_benign | 0.1504 | benign | -0.303 | Destabilizing | 0.667 | D | 0.364 | neutral | None | None | None | None | N |
| T/I | 0.0853 | likely_benign | 0.0783 | benign | -0.136 | Destabilizing | 0.001 | N | 0.203 | neutral | N | 0.479206417 | None | None | N |
| T/K | 0.1153 | likely_benign | 0.1183 | benign | -0.344 | Destabilizing | 0.22 | N | 0.319 | neutral | None | None | None | None | N |
| T/L | 0.0634 | likely_benign | 0.0599 | benign | -0.136 | Destabilizing | 0.001 | N | 0.175 | neutral | None | None | None | None | N |
| T/M | 0.075 | likely_benign | 0.0701 | benign | -0.237 | Destabilizing | 0.497 | N | 0.389 | neutral | None | None | None | None | N |
| T/N | 0.0816 | likely_benign | 0.0794 | benign | -0.145 | Destabilizing | 0.001 | N | 0.175 | neutral | N | 0.453019893 | None | None | N |
| T/P | 0.0538 | likely_benign | 0.0568 | benign | -0.112 | Destabilizing | None | N | 0.159 | neutral | N | 0.410653195 | None | None | N |
| T/Q | 0.1162 | likely_benign | 0.1146 | benign | -0.338 | Destabilizing | 0.667 | D | 0.427 | neutral | None | None | None | None | N |
| T/R | 0.1132 | likely_benign | 0.1199 | benign | -0.054 | Destabilizing | 0.497 | N | 0.433 | neutral | None | None | None | None | N |
| T/S | 0.0728 | likely_benign | 0.0708 | benign | -0.283 | Destabilizing | 0.042 | N | 0.221 | neutral | N | 0.414517433 | None | None | N |
| T/V | 0.0735 | likely_benign | 0.0708 | benign | -0.112 | Destabilizing | 0.02 | N | 0.205 | neutral | None | None | None | None | N |
| T/W | 0.3863 | ambiguous | 0.4027 | ambiguous | -0.937 | Destabilizing | 0.958 | D | 0.407 | neutral | None | None | None | None | N |
| T/Y | 0.1893 | likely_benign | 0.1899 | benign | -0.608 | Destabilizing | 0.667 | D | 0.391 | 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.