Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8231 | 24916;24917;24918 | chr2:178718415;178718414;178718413 | chr2:179583142;179583141;179583140 |
| N2AB | 7914 | 23965;23966;23967 | chr2:178718415;178718414;178718413 | chr2:179583142;179583141;179583140 |
| N2A | 6987 | 21184;21185;21186 | chr2:178718415;178718414;178718413 | chr2:179583142;179583141;179583140 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs373723384  |
-0.864 | None | N | 0.29 | 0.312 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 1.29166E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/P | rs373723384 |
-0.864 | None | N | 0.29 | 0.312 | None | 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 |
| L/P | rs373723384 |
-0.864 | None | N | 0.29 | 0.312 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| L/P | rs373723384 |
-0.864 | None | N | 0.29 | 0.312 | None | gnomAD-4.0.0 | 2.5618E-06 | None | None | None | None | N | None | 3.37519E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1118 | likely_benign | 0.1006 | benign | -0.992 | Destabilizing | None | N | 0.138 | neutral | None | None | None | None | N |
| L/C | 0.4169 | ambiguous | 0.4139 | ambiguous | -0.672 | Destabilizing | 0.356 | N | 0.366 | neutral | None | None | None | None | N |
| L/D | 0.3676 | ambiguous | 0.3559 | ambiguous | -0.359 | Destabilizing | 0.072 | N | 0.447 | neutral | None | None | None | None | N |
| L/E | 0.1792 | likely_benign | 0.1722 | benign | -0.427 | Destabilizing | 0.072 | N | 0.414 | neutral | None | None | None | None | N |
| L/F | 0.0963 | likely_benign | 0.0897 | benign | -0.799 | Destabilizing | None | N | 0.131 | neutral | N | 0.496910958 | None | None | N |
| L/G | 0.2416 | likely_benign | 0.2312 | benign | -1.222 | Destabilizing | 0.031 | N | 0.367 | neutral | None | None | None | None | N |
| L/H | 0.1253 | likely_benign | 0.1203 | benign | -0.482 | Destabilizing | 0.56 | D | 0.401 | neutral | D | 0.525650782 | None | None | N |
| L/I | 0.0798 | likely_benign | 0.076 | benign | -0.481 | Destabilizing | 0.004 | N | 0.204 | neutral | D | 0.52815237 | None | None | N |
| L/K | 0.1145 | likely_benign | 0.1217 | benign | -0.546 | Destabilizing | 0.072 | N | 0.388 | neutral | None | None | None | None | N |
| L/M | 0.0956 | likely_benign | 0.0884 | benign | -0.393 | Destabilizing | 0.214 | N | 0.329 | neutral | None | None | None | None | N |
| L/N | 0.1768 | likely_benign | 0.1754 | benign | -0.272 | Destabilizing | 0.072 | N | 0.472 | neutral | None | None | None | None | N |
| L/P | 0.1 | likely_benign | 0.0862 | benign | -0.617 | Destabilizing | None | N | 0.29 | neutral | N | 0.49584795 | None | None | N |
| L/Q | 0.089 | likely_benign | 0.0843 | benign | -0.517 | Destabilizing | 0.356 | N | 0.463 | neutral | None | None | None | None | N |
| L/R | 0.0932 | likely_benign | 0.095 | benign | 0.031 | Stabilizing | 0.055 | N | 0.449 | neutral | N | 0.512316126 | None | None | N |
| L/S | 0.1166 | likely_benign | 0.1102 | benign | -0.819 | Destabilizing | 0.001 | N | 0.225 | neutral | None | None | None | None | N |
| L/T | 0.0953 | likely_benign | 0.0893 | benign | -0.775 | Destabilizing | None | N | 0.131 | neutral | None | None | None | None | N |
| L/V | 0.0834 | likely_benign | 0.0742 | benign | -0.617 | Destabilizing | None | N | 0.115 | neutral | N | 0.500504409 | None | None | N |
| L/W | 0.148 | likely_benign | 0.1466 | benign | -0.795 | Destabilizing | 0.864 | D | 0.375 | neutral | None | None | None | None | N |
| L/Y | 0.2079 | likely_benign | 0.21 | benign | -0.561 | Destabilizing | 0.038 | N | 0.406 | 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.