Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27057 | 81394;81395;81396 | chr2:178564963;178564962;178564961 | chr2:179429690;179429689;179429688 |
| N2AB | 25416 | 76471;76472;76473 | chr2:178564963;178564962;178564961 | chr2:179429690;179429689;179429688 |
| N2A | 24489 | 73690;73691;73692 | chr2:178564963;178564962;178564961 | chr2:179429690;179429689;179429688 |
| N2B | 17992 | 54199;54200;54201 | chr2:178564963;178564962;178564961 | chr2:179429690;179429689;179429688 |
| Novex-1 | 18117 | 54574;54575;54576 | chr2:178564963;178564962;178564961 | chr2:179429690;179429689;179429688 |
| Novex-2 | 18184 | 54775;54776;54777 | chr2:178564963;178564962;178564961 | chr2:179429690;179429689;179429688 |
| 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 | rs1705146813  |
None | 0.007 | N | 0.488 | 0.048 | 0.257786959452 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30993E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | rs1705146813 |
None | 0.007 | N | 0.488 | 0.048 | 0.257786959452 | gnomAD-4.0.0 | 1.31494E-05 | None | None | None | None | N | None | 0 | 1.30993E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | None | N | 0.069 | 0.095 | 0.0482279557977 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.3134 | likely_benign | 0.2628 | benign | -0.807 | Destabilizing | 0.245 | N | 0.492 | neutral | None | None | None | None | N |
| A/D | 0.1752 | likely_benign | 0.1632 | benign | -0.817 | Destabilizing | 0.007 | N | 0.488 | neutral | N | 0.408524462 | None | None | N |
| A/E | 0.1725 | likely_benign | 0.1653 | benign | -0.859 | Destabilizing | 0.009 | N | 0.457 | neutral | None | None | None | None | N |
| A/F | 0.201 | likely_benign | 0.1617 | benign | -0.969 | Destabilizing | 0.044 | N | 0.673 | neutral | None | None | None | None | N |
| A/G | 0.1151 | likely_benign | 0.0993 | benign | -1.124 | Destabilizing | None | N | 0.075 | neutral | N | 0.4618948 | None | None | N |
| A/H | 0.2734 | likely_benign | 0.2491 | benign | -1.15 | Destabilizing | 0.138 | N | 0.613 | neutral | None | None | None | None | N |
| A/I | 0.1358 | likely_benign | 0.1094 | benign | -0.384 | Destabilizing | None | N | 0.23 | neutral | None | None | None | None | N |
| A/K | 0.3011 | likely_benign | 0.2877 | benign | -1.071 | Destabilizing | 0.009 | N | 0.446 | neutral | None | None | None | None | N |
| A/L | 0.0969 | likely_benign | 0.0775 | benign | -0.384 | Destabilizing | 0.001 | N | 0.364 | neutral | None | None | None | None | N |
| A/M | 0.1397 | likely_benign | 0.1123 | benign | -0.314 | Destabilizing | 0.138 | N | 0.523 | neutral | None | None | None | None | N |
| A/N | 0.1353 | likely_benign | 0.113 | benign | -0.764 | Destabilizing | None | N | 0.316 | neutral | None | None | None | None | N |
| A/P | 0.1076 | likely_benign | 0.093 | benign | -0.509 | Destabilizing | None | N | 0.169 | neutral | N | 0.410156471 | None | None | N |
| A/Q | 0.1995 | likely_benign | 0.1826 | benign | -0.931 | Destabilizing | 0.044 | N | 0.577 | neutral | None | None | None | None | N |
| A/R | 0.3127 | likely_benign | 0.31 | benign | -0.695 | Destabilizing | 0.044 | N | 0.569 | neutral | None | None | None | None | N |
| A/S | 0.0743 | likely_benign | 0.0677 | benign | -1.157 | Destabilizing | None | N | 0.066 | neutral | N | 0.440039448 | None | None | N |
| A/T | 0.0709 | likely_benign | 0.0656 | benign | -1.1 | Destabilizing | None | N | 0.069 | neutral | N | 0.460241362 | None | None | N |
| A/V | 0.0861 | likely_benign | 0.0754 | benign | -0.509 | Destabilizing | None | N | 0.103 | neutral | N | 0.479000481 | None | None | N |
| A/W | 0.5634 | ambiguous | 0.5019 | ambiguous | -1.256 | Destabilizing | 0.788 | D | 0.626 | neutral | None | None | None | None | N |
| A/Y | 0.2714 | likely_benign | 0.2335 | benign | -0.87 | Destabilizing | 0.245 | N | 0.663 | 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.