Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21503 | 64732;64733;64734 | chr2:178585237;178585236;178585235 | chr2:179449964;179449963;179449962 |
| N2AB | 19862 | 59809;59810;59811 | chr2:178585237;178585236;178585235 | chr2:179449964;179449963;179449962 |
| N2A | 18935 | 57028;57029;57030 | chr2:178585237;178585236;178585235 | chr2:179449964;179449963;179449962 |
| N2B | 12438 | 37537;37538;37539 | chr2:178585237;178585236;178585235 | chr2:179449964;179449963;179449962 |
| Novex-1 | 12563 | 37912;37913;37914 | chr2:178585237;178585236;178585235 | chr2:179449964;179449963;179449962 |
| Novex-2 | 12630 | 38113;38114;38115 | chr2:178585237;178585236;178585235 | chr2:179449964;179449963;179449962 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs768027450  |
-0.559 | 0.999 | N | 0.706 | 0.325 | 0.297031009988 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs768027450 |
-0.559 | 0.999 | N | 0.706 | 0.325 | 0.297031009988 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | rs1559535271 |
-0.326 | 0.999 | N | 0.707 | 0.394 | 0.484763619824 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1559535271 |
-0.326 | 0.999 | N | 0.707 | 0.394 | 0.484763619824 | gnomAD-4.0.0 | 1.59229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77408E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 0.997 | N | 0.713 | 0.396 | 0.501308276186 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2212 | likely_benign | 0.1842 | benign | -0.487 | Destabilizing | 0.604 | D | 0.489 | neutral | N | 0.477335894 | None | None | N |
| G/C | 0.3742 | ambiguous | 0.3333 | benign | -0.863 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| G/D | 0.1834 | likely_benign | 0.1651 | benign | -0.721 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | None | None | None | None | N |
| G/E | 0.2361 | likely_benign | 0.2065 | benign | -0.855 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | N | 0.463905237 | None | None | N |
| G/F | 0.7368 | likely_pathogenic | 0.6864 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/H | 0.5683 | likely_pathogenic | 0.5001 | ambiguous | -0.882 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| G/I | 0.611 | likely_pathogenic | 0.5356 | ambiguous | -0.43 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/K | 0.5847 | likely_pathogenic | 0.4941 | ambiguous | -1.036 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/L | 0.5653 | likely_pathogenic | 0.4952 | ambiguous | -0.43 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/M | 0.5668 | likely_pathogenic | 0.5042 | ambiguous | -0.409 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/N | 0.2497 | likely_benign | 0.2199 | benign | -0.618 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| G/P | 0.9452 | likely_pathogenic | 0.9262 | pathogenic | -0.412 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/Q | 0.4337 | ambiguous | 0.3713 | ambiguous | -0.89 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/R | 0.5178 | ambiguous | 0.4317 | ambiguous | -0.613 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.501212832 | None | None | N |
| G/S | 0.1697 | likely_benign | 0.1486 | benign | -0.811 | Destabilizing | 0.998 | D | 0.619 | neutral | None | None | None | None | N |
| G/T | 0.3725 | ambiguous | 0.3072 | benign | -0.874 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/V | 0.4584 | ambiguous | 0.3905 | ambiguous | -0.412 | Destabilizing | 0.997 | D | 0.713 | prob.delet. | N | 0.494460218 | None | None | N |
| G/W | 0.5418 | ambiguous | 0.501 | ambiguous | -1.247 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/Y | 0.5457 | ambiguous | 0.4831 | ambiguous | -0.888 | Destabilizing | 1.0 | D | 0.671 | neutral | 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.