Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6908 | 20947;20948;20949 | chr2:178725482;178725481;178725480 | chr2:179590209;179590208;179590207 |
| N2AB | 6591 | 19996;19997;19998 | chr2:178725482;178725481;178725480 | chr2:179590209;179590208;179590207 |
| N2A | 5664 | 17215;17216;17217 | chr2:178725482;178725481;178725480 | chr2:179590209;179590208;179590207 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/S | rs755380607  |
-0.623 | 0.999 | N | 0.653 | 0.24 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 1.294E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs755380607 |
-0.623 | 0.999 | N | 0.653 | 0.24 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs755380607 |
-0.623 | 0.999 | N | 0.653 | 0.24 | None | gnomAD-4.0.0 | 1.85964E-06 | None | None | None | None | N | None | 2.67044E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47794E-07 | 0 | 0 |
| N/T | None | None | 0.999 | N | 0.71 | 0.447 | 0.562131562789 | gnomAD-4.0.0 | 1.36889E-06 | None | None | None | None | N | None | 2.99115E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65717E-05 |
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 | 0.4784 | ambiguous | 0.4952 | ambiguous | -0.766 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/C | 0.6314 | likely_pathogenic | 0.6406 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| N/D | 0.1679 | likely_benign | 0.1594 | benign | -0.08 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | D | 0.530248525 | None | None | N |
| N/E | 0.4797 | ambiguous | 0.4863 | ambiguous | 0.043 | Stabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | N |
| N/F | 0.8193 | likely_pathogenic | 0.8354 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| N/G | 0.3223 | likely_benign | 0.316 | benign | -1.11 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| N/H | 0.1778 | likely_benign | 0.1738 | benign | -0.701 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.492747129 | None | None | N |
| N/I | 0.6791 | likely_pathogenic | 0.7164 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.756 | deleterious | D | 0.531019554 | None | None | N |
| N/K | 0.3038 | likely_benign | 0.3252 | benign | 0.062 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.492187243 | None | None | N |
| N/L | 0.6224 | likely_pathogenic | 0.6656 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| N/M | 0.5909 | likely_pathogenic | 0.6319 | pathogenic | 0.292 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| N/P | 0.8565 | likely_pathogenic | 0.8685 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| N/Q | 0.4174 | ambiguous | 0.4206 | ambiguous | -0.474 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| N/R | 0.4012 | ambiguous | 0.4251 | ambiguous | -0.018 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/S | 0.1702 | likely_benign | 0.1679 | benign | -0.694 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.482730269 | None | None | N |
| N/T | 0.3051 | likely_benign | 0.3167 | benign | -0.363 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | N | 0.51864929 | None | None | N |
| N/V | 0.6747 | likely_pathogenic | 0.7146 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| N/W | 0.8858 | likely_pathogenic | 0.8993 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| N/Y | 0.2953 | likely_benign | 0.3023 | benign | -0.083 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.530766064 | 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.