Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30713 | 92362;92363;92364 | chr2:178549585;178549584;178549583 | chr2:179414312;179414311;179414310 |
| N2AB | 29072 | 87439;87440;87441 | chr2:178549585;178549584;178549583 | chr2:179414312;179414311;179414310 |
| N2A | 28145 | 84658;84659;84660 | chr2:178549585;178549584;178549583 | chr2:179414312;179414311;179414310 |
| N2B | 21648 | 65167;65168;65169 | chr2:178549585;178549584;178549583 | chr2:179414312;179414311;179414310 |
| Novex-1 | 21773 | 65542;65543;65544 | chr2:178549585;178549584;178549583 | chr2:179414312;179414311;179414310 |
| Novex-2 | 21840 | 65743;65744;65745 | chr2:178549585;178549584;178549583 | chr2:179414312;179414311;179414310 |
| 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/P | rs367807708  |
-0.741 | 1.0 | N | 0.749 | 0.48 | None | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 1.23987E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs367807708 |
-0.741 | 1.0 | N | 0.749 | 0.48 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 1.44697E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs367807708 |
-0.741 | 1.0 | N | 0.749 | 0.48 | None | gnomAD-4.0.0 | 4.9619E-06 | None | None | None | None | N | None | 1.06801E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.999 | N | 0.651 | 0.315 | 0.335661160332 | gnomAD-4.0.0 | 6.84898E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00435E-07 | 0 | 0 |
| A/T | None | None | 1.0 | N | 0.757 | 0.293 | 0.324986149311 | gnomAD-4.0.0 | 1.3698E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80087E-06 | 0 | 0 |
| A/V | None | None | 0.999 | N | 0.689 | 0.316 | 0.480497669815 | gnomAD-4.0.0 | 8.40225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-06 | 0 | 7.32654E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6624 | likely_pathogenic | 0.6766 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/D | 0.9956 | likely_pathogenic | 0.9961 | pathogenic | -3.148 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.516678648 | None | None | N |
| A/E | 0.9896 | likely_pathogenic | 0.9908 | pathogenic | -2.983 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| A/F | 0.924 | likely_pathogenic | 0.9468 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/G | 0.5189 | ambiguous | 0.5666 | pathogenic | -1.728 | Destabilizing | 0.999 | D | 0.61 | neutral | N | 0.515918179 | None | None | N |
| A/H | 0.9909 | likely_pathogenic | 0.9919 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/I | 0.7357 | likely_pathogenic | 0.8225 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/K | 0.9957 | likely_pathogenic | 0.9964 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.733 | deleterious | None | None | None | None | N |
| A/L | 0.6485 | likely_pathogenic | 0.7061 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/M | 0.6891 | likely_pathogenic | 0.762 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/N | 0.9717 | likely_pathogenic | 0.9746 | pathogenic | -1.929 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/P | 0.8835 | likely_pathogenic | 0.9055 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.495345162 | None | None | N |
| A/Q | 0.9677 | likely_pathogenic | 0.9714 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/R | 0.9851 | likely_pathogenic | 0.9865 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/S | 0.2935 | likely_benign | 0.3183 | benign | -2.246 | Highly Destabilizing | 0.999 | D | 0.651 | prob.neutral | N | 0.50001597 | None | None | N |
| A/T | 0.5609 | ambiguous | 0.6429 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.515899856 | None | None | N |
| A/V | 0.4831 | ambiguous | 0.6056 | pathogenic | -0.608 | Destabilizing | 0.999 | D | 0.689 | prob.delet. | N | 0.459333554 | None | None | N |
| A/W | 0.9939 | likely_pathogenic | 0.9959 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/Y | 0.9806 | likely_pathogenic | 0.9847 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.832 | deleterious | 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.