Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14713 | 44362;44363;44364 | chr2:178630821;178630820;178630819 | chr2:179495548;179495547;179495546 |
| N2AB | 13072 | 39439;39440;39441 | chr2:178630821;178630820;178630819 | chr2:179495548;179495547;179495546 |
| N2A | 12145 | 36658;36659;36660 | chr2:178630821;178630820;178630819 | chr2:179495548;179495547;179495546 |
| N2B | 5648 | 17167;17168;17169 | chr2:178630821;178630820;178630819 | chr2:179495548;179495547;179495546 |
| Novex-1 | 5773 | 17542;17543;17544 | chr2:178630821;178630820;178630819 | chr2:179495548;179495547;179495546 |
| Novex-2 | 5840 | 17743;17744;17745 | chr2:178630821;178630820;178630819 | chr2:179495548;179495547;179495546 |
| 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/D | rs750296112  |
-0.564 | 0.437 | N | 0.466 | 0.195 | 0.232513804876 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/D | rs750296112 |
-0.564 | 0.437 | N | 0.466 | 0.195 | 0.232513804876 | gnomAD-4.0.0 | 3.18621E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86177E-06 | 0 | 3.02718E-05 |
| A/G | None | None | 0.181 | N | 0.309 | 0.167 | 0.124217242631 | gnomAD-4.0.0 | 1.5931E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43476E-05 | 0 |
| A/T | rs1476356250 |
None | 0.003 | N | 0.213 | 0.108 | 0.104622674875 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1476356250 |
None | 0.003 | N | 0.213 | 0.108 | 0.104622674875 | gnomAD-4.0.0 | 2.48017E-06 | None | None | None | None | N | None | 1.33622E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54392E-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 | 0.5077 | ambiguous | 0.5611 | ambiguous | -0.762 | Destabilizing | 0.96 | D | 0.364 | neutral | None | None | None | None | N |
| A/D | 0.234 | likely_benign | 0.2819 | benign | -0.633 | Destabilizing | 0.437 | N | 0.466 | neutral | N | 0.428755644 | None | None | N |
| A/E | 0.2257 | likely_benign | 0.2463 | benign | -0.774 | Destabilizing | 0.227 | N | 0.364 | neutral | None | None | None | None | N |
| A/F | 0.2708 | likely_benign | 0.2873 | benign | -0.88 | Destabilizing | 0.507 | D | 0.533 | neutral | None | None | None | None | N |
| A/G | 0.1522 | likely_benign | 0.165 | benign | -0.447 | Destabilizing | 0.181 | N | 0.309 | neutral | N | 0.42980598 | None | None | N |
| A/H | 0.3831 | ambiguous | 0.4373 | ambiguous | -0.471 | Destabilizing | 0.96 | D | 0.437 | neutral | None | None | None | None | N |
| A/I | 0.1827 | likely_benign | 0.1716 | benign | -0.353 | Destabilizing | 0.128 | N | 0.277 | neutral | None | None | None | None | N |
| A/K | 0.3462 | ambiguous | 0.4209 | ambiguous | -0.833 | Destabilizing | 0.227 | N | 0.359 | neutral | None | None | None | None | N |
| A/L | 0.1386 | likely_benign | 0.1364 | benign | -0.353 | Destabilizing | 0.057 | N | 0.322 | neutral | None | None | None | None | N |
| A/M | 0.1721 | likely_benign | 0.1692 | benign | -0.448 | Destabilizing | 0.057 | N | 0.34 | neutral | None | None | None | None | N |
| A/N | 0.172 | likely_benign | 0.192 | benign | -0.464 | Destabilizing | 0.676 | D | 0.499 | neutral | None | None | None | None | N |
| A/P | 0.1084 | likely_benign | 0.094 | benign | -0.324 | Destabilizing | None | N | 0.142 | neutral | N | 0.385257468 | None | None | N |
| A/Q | 0.2791 | likely_benign | 0.3005 | benign | -0.739 | Destabilizing | 0.676 | D | 0.371 | neutral | None | None | None | None | N |
| A/R | 0.3375 | likely_benign | 0.4013 | ambiguous | -0.337 | Destabilizing | 0.676 | D | 0.37 | neutral | None | None | None | None | N |
| A/S | 0.0899 | likely_benign | 0.0935 | benign | -0.656 | Destabilizing | 0.1 | N | 0.414 | neutral | N | 0.427951121 | None | None | N |
| A/T | 0.0812 | likely_benign | 0.0789 | benign | -0.72 | Destabilizing | 0.003 | N | 0.213 | neutral | N | 0.415282113 | None | None | N |
| A/V | 0.105 | likely_benign | 0.0972 | benign | -0.324 | Destabilizing | 0.003 | N | 0.141 | neutral | N | 0.406777639 | None | None | N |
| A/W | 0.6497 | likely_pathogenic | 0.7153 | pathogenic | -1.043 | Destabilizing | 0.96 | D | 0.611 | neutral | None | None | None | None | N |
| A/Y | 0.376 | ambiguous | 0.436 | ambiguous | -0.703 | Destabilizing | 0.864 | D | 0.471 | 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.