Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21501 | 64726;64727;64728 | chr2:178585243;178585242;178585241 | chr2:179449970;179449969;179449968 |
| N2AB | 19860 | 59803;59804;59805 | chr2:178585243;178585242;178585241 | chr2:179449970;179449969;179449968 |
| N2A | 18933 | 57022;57023;57024 | chr2:178585243;178585242;178585241 | chr2:179449970;179449969;179449968 |
| N2B | 12436 | 37531;37532;37533 | chr2:178585243;178585242;178585241 | chr2:179449970;179449969;179449968 |
| Novex-1 | 12561 | 37906;37907;37908 | chr2:178585243;178585242;178585241 | chr2:179449970;179449969;179449968 |
| Novex-2 | 12628 | 38107;38108;38109 | chr2:178585243;178585242;178585241 | chr2:179449970;179449969;179449968 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/I | rs1251141163  |
0.416 | 0.938 | N | 0.689 | 0.199 | 0.335414705075 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/I | rs1251141163 |
0.416 | 0.938 | N | 0.689 | 0.199 | 0.335414705075 | gnomAD-4.0.0 | 1.59228E-06 | None | None | None | None | N | None | 5.66251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3866 | ambiguous | 0.3715 | ambiguous | -0.689 | Destabilizing | 0.919 | D | 0.589 | neutral | None | None | None | None | N |
| K/C | 0.4827 | ambiguous | 0.4806 | ambiguous | -1.087 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| K/D | 0.7686 | likely_pathogenic | 0.7377 | pathogenic | -0.96 | Destabilizing | 0.996 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/E | 0.2106 | likely_benign | 0.1962 | benign | -0.824 | Destabilizing | 0.946 | D | 0.521 | neutral | N | 0.465366675 | None | None | N |
| K/F | 0.5423 | ambiguous | 0.536 | ambiguous | -0.427 | Destabilizing | 0.976 | D | 0.753 | deleterious | None | None | None | None | N |
| K/G | 0.5416 | ambiguous | 0.52 | ambiguous | -1.068 | Destabilizing | 0.988 | D | 0.675 | neutral | None | None | None | None | N |
| K/H | 0.2435 | likely_benign | 0.2446 | benign | -1.457 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/I | 0.2057 | likely_benign | 0.2001 | benign | 0.305 | Stabilizing | 0.938 | D | 0.689 | prob.neutral | N | 0.464673242 | None | None | N |
| K/L | 0.1971 | likely_benign | 0.1975 | benign | 0.305 | Stabilizing | 0.034 | N | 0.453 | neutral | None | None | None | None | N |
| K/M | 0.1167 | likely_benign | 0.1126 | benign | 0.154 | Stabilizing | 0.702 | D | 0.472 | neutral | None | None | None | None | N |
| K/N | 0.4616 | ambiguous | 0.4312 | ambiguous | -0.958 | Destabilizing | 0.984 | D | 0.606 | neutral | N | 0.498305813 | None | None | N |
| K/P | 0.9834 | likely_pathogenic | 0.9819 | pathogenic | 0.003 | Stabilizing | 0.996 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/Q | 0.0974 | likely_benign | 0.1015 | benign | -1.04 | Destabilizing | 0.984 | D | 0.595 | neutral | N | 0.434390407 | None | None | N |
| K/R | 0.0754 | likely_benign | 0.0776 | benign | -0.818 | Destabilizing | 0.946 | D | 0.515 | neutral | N | 0.463673164 | None | None | N |
| K/S | 0.4188 | ambiguous | 0.3899 | ambiguous | -1.53 | Destabilizing | 0.959 | D | 0.527 | neutral | None | None | None | None | N |
| K/T | 0.1548 | likely_benign | 0.1504 | benign | -1.186 | Destabilizing | 0.896 | D | 0.634 | neutral | N | 0.439102793 | None | None | N |
| K/V | 0.2087 | likely_benign | 0.203 | benign | 0.003 | Stabilizing | 0.851 | D | 0.633 | neutral | None | None | None | None | N |
| K/W | 0.5617 | ambiguous | 0.5686 | pathogenic | -0.374 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/Y | 0.4454 | ambiguous | 0.4381 | ambiguous | 0.009 | Stabilizing | 0.988 | D | 0.733 | prob.delet. | 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.