Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5722 | 17389;17390;17391 | chr2:178731711;178731710;178731709 | chr2:179596438;179596437;179596436 |
| N2AB | 5405 | 16438;16439;16440 | chr2:178731711;178731710;178731709 | chr2:179596438;179596437;179596436 |
| N2A | 4478 | 13657;13658;13659 | chr2:178731711;178731710;178731709 | chr2:179596438;179596437;179596436 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs541256724  |
-0.031 | 0.966 | N | 0.786 | 0.505 | 0.516827169674 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs541256724 |
-0.031 | 0.966 | N | 0.786 | 0.505 | 0.516827169674 | gnomAD-4.0.0 | 1.59664E-06 | None | None | None | None | N | None | 0 | 2.28843E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs541256724 |
-1.202 | 0.669 | N | 0.644 | 0.294 | 0.321951552304 | 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 |
| A/T | rs541256724 |
-1.202 | 0.669 | N | 0.644 | 0.294 | 0.321951552304 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | rs541256724 |
-1.202 | 0.669 | N | 0.644 | 0.294 | 0.321951552304 | gnomAD-4.0.0 | 6.56556E-06 | None | None | None | None | N | None | 2.40489E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.541 | ambiguous | 0.471 | ambiguous | -0.814 | Destabilizing | 0.037 | N | 0.443 | neutral | None | None | None | None | N |
| A/D | 0.724 | likely_pathogenic | 0.6609 | pathogenic | -1.497 | Destabilizing | 0.934 | D | 0.783 | deleterious | N | 0.509933693 | None | None | N |
| A/E | 0.7082 | likely_pathogenic | 0.6467 | pathogenic | -1.357 | Destabilizing | 0.842 | D | 0.778 | deleterious | None | None | None | None | N |
| A/F | 0.7522 | likely_pathogenic | 0.7121 | pathogenic | -0.614 | Destabilizing | 0.037 | N | 0.571 | neutral | None | None | None | None | N |
| A/G | 0.1691 | likely_benign | 0.1503 | benign | -1.274 | Destabilizing | 0.669 | D | 0.598 | neutral | N | 0.486503322 | None | None | N |
| A/H | 0.851 | likely_pathogenic | 0.8198 | pathogenic | -1.706 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| A/I | 0.5763 | likely_pathogenic | 0.5125 | ambiguous | 0.295 | Stabilizing | 0.949 | D | 0.794 | deleterious | None | None | None | None | N |
| A/K | 0.8812 | likely_pathogenic | 0.846 | pathogenic | -1.052 | Destabilizing | 0.842 | D | 0.778 | deleterious | None | None | None | None | N |
| A/L | 0.5221 | ambiguous | 0.4619 | ambiguous | 0.295 | Stabilizing | 0.728 | D | 0.681 | prob.neutral | None | None | None | None | N |
| A/M | 0.5213 | ambiguous | 0.4682 | ambiguous | 0.142 | Stabilizing | 0.991 | D | 0.76 | deleterious | None | None | None | None | N |
| A/N | 0.6242 | likely_pathogenic | 0.5564 | ambiguous | -1.124 | Destabilizing | 0.949 | D | 0.779 | deleterious | None | None | None | None | N |
| A/P | 0.9473 | likely_pathogenic | 0.9315 | pathogenic | -0.035 | Destabilizing | 0.966 | D | 0.786 | deleterious | N | 0.503350328 | None | None | N |
| A/Q | 0.7396 | likely_pathogenic | 0.698 | pathogenic | -0.999 | Destabilizing | 0.974 | D | 0.797 | deleterious | None | None | None | None | N |
| A/R | 0.8222 | likely_pathogenic | 0.7869 | pathogenic | -1.1 | Destabilizing | 0.949 | D | 0.795 | deleterious | None | None | None | None | N |
| A/S | 0.1056 | likely_benign | 0.0981 | benign | -1.58 | Destabilizing | 0.022 | N | 0.199 | neutral | N | 0.487791401 | None | None | N |
| A/T | 0.1187 | likely_benign | 0.1057 | benign | -1.308 | Destabilizing | 0.669 | D | 0.644 | neutral | N | 0.493813297 | None | None | N |
| A/V | 0.2754 | likely_benign | 0.2415 | benign | -0.035 | Destabilizing | 0.801 | D | 0.652 | neutral | N | 0.509798682 | None | None | N |
| A/W | 0.9582 | likely_pathogenic | 0.9429 | pathogenic | -1.298 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| A/Y | 0.8519 | likely_pathogenic | 0.8145 | pathogenic | -0.711 | Destabilizing | 0.904 | D | 0.787 | 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.