Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31531 | 94816;94817;94818 | chr2:178546837;178546836;178546835 | chr2:179411564;179411563;179411562 |
| N2AB | 29890 | 89893;89894;89895 | chr2:178546837;178546836;178546835 | chr2:179411564;179411563;179411562 |
| N2A | 28963 | 87112;87113;87114 | chr2:178546837;178546836;178546835 | chr2:179411564;179411563;179411562 |
| N2B | 22466 | 67621;67622;67623 | chr2:178546837;178546836;178546835 | chr2:179411564;179411563;179411562 |
| Novex-1 | 22591 | 67996;67997;67998 | chr2:178546837;178546836;178546835 | chr2:179411564;179411563;179411562 |
| Novex-2 | 22658 | 68197;68198;68199 | chr2:178546837;178546836;178546835 | chr2:179411564;179411563;179411562 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs1039995106  |
-0.387 | None | N | 0.105 | 0.16 | 0.210429274316 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | I | None | 0 | 5.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/E | rs1039995106 |
-0.387 | None | N | 0.105 | 0.16 | 0.210429274316 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/E | rs1039995106 |
-0.387 | None | N | 0.105 | 0.16 | 0.210429274316 | gnomAD-4.0.0 | 1.30583E-05 | None | None | None | None | I | None | 0 | 6.68114E-05 | None | 0 | 0 | None | 0 | 0 | 1.44617E-05 | 0 | 0 |
| A/T | rs765066425 |
-0.175 | 0.007 | N | 0.154 | 0.057 | 0.17948927462 | gnomAD-2.1.1 | 3.97E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.66426E-04 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs765066425 |
-0.175 | 0.007 | N | 0.154 | 0.057 | 0.17948927462 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 7.71903E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs765066425 |
-0.175 | 0.007 | N | 0.154 | 0.057 | 0.17948927462 | gnomAD-4.0.0 | 8.70684E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.46217E-04 | None | 0 | 0 | 2.55251E-06 | 0 | 0 |
| A/V | rs1039995106 |
0.018 | None | N | 0.045 | 0.13 | 0.252681307341 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1039995106 |
0.018 | None | N | 0.045 | 0.13 | 0.252681307341 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1039995106 |
0.018 | None | N | 0.045 | 0.13 | 0.252681307341 | gnomAD-4.0.0 | 1.86547E-06 | None | None | None | None | I | None | 0 | 1.67029E-05 | None | 0 | 0 | None | 0 | 0 | 1.70137E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3437 | ambiguous | 0.2962 | benign | -0.776 | Destabilizing | 0.245 | N | 0.157 | neutral | None | None | None | None | I |
| A/D | 0.2052 | likely_benign | 0.1988 | benign | -0.616 | Destabilizing | 0.009 | N | 0.267 | neutral | None | None | None | None | I |
| A/E | 0.1547 | likely_benign | 0.1489 | benign | -0.77 | Destabilizing | None | N | 0.105 | neutral | N | 0.376065327 | None | None | I |
| A/F | 0.1642 | likely_benign | 0.1483 | benign | -0.919 | Destabilizing | None | N | 0.105 | neutral | None | None | None | None | I |
| A/G | 0.1037 | likely_benign | 0.0988 | benign | -0.32 | Destabilizing | 0.068 | N | 0.138 | neutral | N | 0.457510488 | None | None | I |
| A/H | 0.2932 | likely_benign | 0.2557 | benign | -0.329 | Destabilizing | 0.245 | N | 0.299 | neutral | None | None | None | None | I |
| A/I | 0.0834 | likely_benign | 0.0786 | benign | -0.378 | Destabilizing | None | N | 0.085 | neutral | None | None | None | None | I |
| A/K | 0.2343 | likely_benign | 0.2156 | benign | -0.687 | Destabilizing | 0.009 | N | 0.246 | neutral | None | None | None | None | I |
| A/L | 0.0705 | likely_benign | 0.0664 | benign | -0.378 | Destabilizing | None | N | 0.109 | neutral | None | None | None | None | I |
| A/M | 0.1013 | likely_benign | 0.091 | benign | -0.485 | Destabilizing | 0.002 | N | 0.163 | neutral | None | None | None | None | I |
| A/N | 0.13 | likely_benign | 0.1224 | benign | -0.346 | Destabilizing | 0.085 | N | 0.345 | neutral | None | None | None | None | I |
| A/P | 0.1543 | likely_benign | 0.1556 | benign | -0.315 | Destabilizing | 0.065 | N | 0.257 | neutral | N | 0.459355927 | None | None | I |
| A/Q | 0.1702 | likely_benign | 0.1513 | benign | -0.635 | Destabilizing | 0.002 | N | 0.146 | neutral | None | None | None | None | I |
| A/R | 0.2154 | likely_benign | 0.2006 | benign | -0.194 | Destabilizing | 0.044 | N | 0.281 | neutral | None | None | None | None | I |
| A/S | 0.0749 | likely_benign | 0.0741 | benign | -0.514 | Destabilizing | 0.014 | N | 0.158 | neutral | N | 0.446157344 | None | None | I |
| A/T | 0.0712 | likely_benign | 0.0707 | benign | -0.594 | Destabilizing | 0.007 | N | 0.154 | neutral | N | 0.426320789 | None | None | I |
| A/V | 0.0615 | likely_benign | 0.0614 | benign | -0.315 | Destabilizing | None | N | 0.045 | neutral | N | 0.461377512 | None | None | I |
| A/W | 0.5523 | ambiguous | 0.4962 | ambiguous | -1.049 | Destabilizing | 0.497 | N | 0.301 | neutral | None | None | None | None | I |
| A/Y | 0.3204 | likely_benign | 0.286 | benign | -0.714 | Destabilizing | 0.022 | N | 0.336 | neutral | None | None | None | None | I |
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.