Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18172 | 54739;54740;54741 | chr2:178604173;178604172;178604171 | chr2:179468900;179468899;179468898 |
| N2AB | 16531 | 49816;49817;49818 | chr2:178604173;178604172;178604171 | chr2:179468900;179468899;179468898 |
| N2A | 15604 | 47035;47036;47037 | chr2:178604173;178604172;178604171 | chr2:179468900;179468899;179468898 |
| N2B | 9107 | 27544;27545;27546 | chr2:178604173;178604172;178604171 | chr2:179468900;179468899;179468898 |
| Novex-1 | 9232 | 27919;27920;27921 | chr2:178604173;178604172;178604171 | chr2:179468900;179468899;179468898 |
| Novex-2 | 9299 | 28120;28121;28122 | chr2:178604173;178604172;178604171 | chr2:179468900;179468899;179468898 |
| 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/T | rs1236991246  |
-0.084 | 1.0 | N | 0.781 | 0.319 | 0.384752662912 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/T | rs1236991246 |
-0.084 | 1.0 | N | 0.781 | 0.319 | 0.384752662912 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs1236991246 |
-0.084 | 1.0 | N | 0.781 | 0.319 | 0.384752662912 | gnomAD-4.0.0 | 3.85074E-06 | None | None | None | None | N | None | 0 | 1.69733E-05 | None | 0 | 2.43463E-05 | None | 0 | 0 | 0 | 1.34271E-05 | 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 | 0.4402 | ambiguous | 0.4044 | ambiguous | -0.303 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/C | 0.655 | likely_pathogenic | 0.6999 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| K/D | 0.7611 | likely_pathogenic | 0.8107 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| K/E | 0.3361 | likely_benign | 0.3189 | benign | -0.03 | Destabilizing | 0.999 | D | 0.598 | neutral | N | 0.469975566 | None | None | N |
| K/F | 0.7754 | likely_pathogenic | 0.783 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| K/G | 0.6791 | likely_pathogenic | 0.6715 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| K/H | 0.4375 | ambiguous | 0.4343 | ambiguous | -1.042 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/I | 0.3273 | likely_benign | 0.2925 | benign | 0.459 | Stabilizing | 1.0 | D | 0.798 | deleterious | N | 0.501375908 | None | None | N |
| K/L | 0.3863 | ambiguous | 0.3539 | ambiguous | 0.459 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| K/M | 0.2693 | likely_benign | 0.2417 | benign | 0.446 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/N | 0.4895 | ambiguous | 0.5552 | ambiguous | -0.089 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.424909706 | None | None | N |
| K/P | 0.4035 | ambiguous | 0.4358 | ambiguous | 0.235 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| K/Q | 0.1975 | likely_benign | 0.1776 | benign | -0.277 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.465665824 | None | None | N |
| K/R | 0.1003 | likely_benign | 0.0948 | benign | -0.401 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.43836458 | None | None | N |
| K/S | 0.5229 | ambiguous | 0.5376 | ambiguous | -0.682 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| K/T | 0.2614 | likely_benign | 0.2176 | benign | -0.448 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.460433363 | None | None | N |
| K/V | 0.3274 | likely_benign | 0.2935 | benign | 0.235 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/W | 0.8621 | likely_pathogenic | 0.8613 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| K/Y | 0.6489 | likely_pathogenic | 0.6847 | pathogenic | 0.183 | Stabilizing | 1.0 | D | 0.779 | 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.