Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15099 | 45520;45521;45522 | chr2:178621529;178621528;178621527 | chr2:179486256;179486255;179486254 |
| N2AB | 13458 | 40597;40598;40599 | chr2:178621529;178621528;178621527 | chr2:179486256;179486255;179486254 |
| N2A | 12531 | 37816;37817;37818 | chr2:178621529;178621528;178621527 | chr2:179486256;179486255;179486254 |
| N2B | 6034 | 18325;18326;18327 | chr2:178621529;178621528;178621527 | chr2:179486256;179486255;179486254 |
| Novex-1 | 6159 | 18700;18701;18702 | chr2:178621529;178621528;178621527 | chr2:179486256;179486255;179486254 |
| Novex-2 | 6226 | 18901;18902;18903 | chr2:178621529;178621528;178621527 | chr2:179486256;179486255;179486254 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs746107267  |
0.085 | None | N | 0.13 | 0.116 | 0.148003135375 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs746107267 |
0.085 | None | N | 0.13 | 0.116 | 0.148003135375 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/K | rs746107267 |
0.085 | None | N | 0.13 | 0.116 | 0.148003135375 | gnomAD-4.0.0 | 2.73895E-06 | None | None | None | None | N | None | 0 | 8.967E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs1239591907 |
-0.795 | None | N | 0.108 | 0.115 | 0.0482279557977 | 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 |
| N/S | rs1239591907 |
-0.795 | None | N | 0.108 | 0.115 | 0.0482279557977 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31389E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs1239591907 |
-0.795 | None | N | 0.108 | 0.115 | 0.0482279557977 | gnomAD-4.0.0 | 5.13279E-06 | None | None | None | None | N | None | 0 | 6.79579E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.141 | likely_benign | 0.1488 | benign | -0.905 | Destabilizing | None | N | 0.253 | neutral | None | None | None | None | N |
| N/C | 0.2565 | likely_benign | 0.2518 | benign | 0.102 | Stabilizing | 0.245 | N | 0.499 | neutral | None | None | None | None | N |
| N/D | 0.1028 | likely_benign | 0.0949 | benign | -0.205 | Destabilizing | None | N | 0.121 | neutral | N | 0.487304759 | None | None | N |
| N/E | 0.2225 | likely_benign | 0.2256 | benign | -0.183 | Destabilizing | None | N | 0.115 | neutral | None | None | None | None | N |
| N/F | 0.3169 | likely_benign | 0.3294 | benign | -0.992 | Destabilizing | 0.245 | N | 0.573 | neutral | None | None | None | None | N |
| N/G | 0.1994 | likely_benign | 0.2051 | benign | -1.159 | Destabilizing | None | N | 0.123 | neutral | None | None | None | None | N |
| N/H | 0.102 | likely_benign | 0.1001 | benign | -1.035 | Destabilizing | 0.196 | N | 0.432 | neutral | N | 0.51336323 | None | None | N |
| N/I | 0.1103 | likely_benign | 0.11 | benign | -0.291 | Destabilizing | 0.033 | N | 0.553 | neutral | N | 0.492685714 | None | None | N |
| N/K | 0.1895 | likely_benign | 0.1919 | benign | -0.119 | Destabilizing | None | N | 0.13 | neutral | N | 0.46633034 | None | None | N |
| N/L | 0.1395 | likely_benign | 0.1508 | benign | -0.291 | Destabilizing | 0.018 | N | 0.446 | neutral | None | None | None | None | N |
| N/M | 0.2229 | likely_benign | 0.2281 | benign | 0.32 | Stabilizing | 0.497 | N | 0.495 | neutral | None | None | None | None | N |
| N/P | 0.3672 | ambiguous | 0.3795 | ambiguous | -0.468 | Destabilizing | 0.044 | N | 0.493 | neutral | None | None | None | None | N |
| N/Q | 0.2162 | likely_benign | 0.2216 | benign | -0.727 | Destabilizing | 0.002 | N | 0.161 | neutral | None | None | None | None | N |
| N/R | 0.2124 | likely_benign | 0.2207 | benign | -0.037 | Destabilizing | 0.009 | N | 0.404 | neutral | None | None | None | None | N |
| N/S | 0.0656 | likely_benign | 0.0639 | benign | -0.598 | Destabilizing | None | N | 0.108 | neutral | N | 0.482954944 | None | None | N |
| N/T | 0.0919 | likely_benign | 0.0883 | benign | -0.397 | Destabilizing | 0.007 | N | 0.31 | neutral | N | 0.453490999 | None | None | N |
| N/V | 0.1368 | likely_benign | 0.1402 | benign | -0.468 | Destabilizing | 0.009 | N | 0.451 | neutral | None | None | None | None | N |
| N/W | 0.5721 | likely_pathogenic | 0.6035 | pathogenic | -0.767 | Destabilizing | 0.788 | D | 0.519 | neutral | None | None | None | None | N |
| N/Y | 0.1216 | likely_benign | 0.1268 | benign | -0.578 | Destabilizing | 0.196 | N | 0.565 | neutral | N | 0.512415964 | 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.