Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2568 | 7927;7928;7929 | chr2:178773262;178773261;178773260 | chr2:179637989;179637988;179637987 |
| N2AB | 2568 | 7927;7928;7929 | chr2:178773262;178773261;178773260 | chr2:179637989;179637988;179637987 |
| N2A | 2568 | 7927;7928;7929 | chr2:178773262;178773261;178773260 | chr2:179637989;179637988;179637987 |
| N2B | 2522 | 7789;7790;7791 | chr2:178773262;178773261;178773260 | chr2:179637989;179637988;179637987 |
| Novex-1 | 2522 | 7789;7790;7791 | chr2:178773262;178773261;178773260 | chr2:179637989;179637988;179637987 |
| Novex-2 | 2522 | 7789;7790;7791 | chr2:178773262;178773261;178773260 | chr2:179637989;179637988;179637987 |
| Novex-3 | 2568 | 7927;7928;7929 | chr2:178773262;178773261;178773260 | chr2:179637989;179637988;179637987 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs746270312  |
-0.043 | 0.997 | N | 0.583 | 0.317 | 0.237489013734 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| K/Q | rs746270312 |
-0.043 | 0.997 | N | 0.583 | 0.317 | 0.237489013734 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| K/Q | rs746270312 |
-0.043 | 0.997 | N | 0.583 | 0.317 | 0.237489013734 | gnomAD-4.0.0 | 3.09829E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23745E-06 | 0 | 0 |
| K/R | None | None | 0.217 | N | 0.218 | 0.132 | 0.269111216191 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3897 | ambiguous | 0.3504 | ambiguous | -0.716 | Destabilizing | 0.996 | D | 0.568 | neutral | None | None | None | None | N |
| K/C | 0.6198 | likely_pathogenic | 0.6156 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| K/D | 0.4117 | ambiguous | 0.361 | ambiguous | -0.014 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| K/E | 0.1421 | likely_benign | 0.1258 | benign | 0.125 | Stabilizing | 0.989 | D | 0.513 | neutral | N | 0.445343489 | None | None | N |
| K/F | 0.8291 | likely_pathogenic | 0.7953 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| K/G | 0.3144 | likely_benign | 0.3066 | benign | -1.062 | Destabilizing | 0.999 | D | 0.58 | neutral | None | None | None | None | N |
| K/H | 0.2799 | likely_benign | 0.2781 | benign | -1.089 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| K/I | 0.6312 | likely_pathogenic | 0.5214 | ambiguous | 0.185 | Stabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| K/L | 0.3879 | ambiguous | 0.3494 | ambiguous | 0.185 | Stabilizing | 0.999 | D | 0.58 | neutral | None | None | None | None | N |
| K/M | 0.2753 | likely_benign | 0.2459 | benign | -0.159 | Destabilizing | 1.0 | D | 0.611 | neutral | N | 0.500825906 | None | None | N |
| K/N | 0.2756 | likely_benign | 0.2371 | benign | -0.505 | Destabilizing | 0.998 | D | 0.585 | neutral | N | 0.385001727 | None | None | N |
| K/P | 0.8831 | likely_pathogenic | 0.8046 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| K/Q | 0.1044 | likely_benign | 0.1043 | benign | -0.462 | Destabilizing | 0.997 | D | 0.583 | neutral | N | 0.439411894 | None | None | N |
| K/R | 0.077 | likely_benign | 0.0797 | benign | -0.329 | Destabilizing | 0.217 | N | 0.218 | neutral | N | 0.450934979 | None | None | N |
| K/S | 0.3843 | ambiguous | 0.338 | benign | -1.148 | Destabilizing | 0.996 | D | 0.559 | neutral | None | None | None | None | N |
| K/T | 0.3586 | ambiguous | 0.2839 | benign | -0.795 | Destabilizing | 0.998 | D | 0.621 | neutral | N | 0.49741716 | None | None | N |
| K/V | 0.5761 | likely_pathogenic | 0.4879 | ambiguous | -0.087 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| K/W | 0.7995 | likely_pathogenic | 0.7738 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| K/Y | 0.6448 | likely_pathogenic | 0.6031 | pathogenic | -0.039 | Destabilizing | 1.0 | D | 0.627 | 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.