Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31674 | 95245;95246;95247 | chr2:178546311;178546310;178546309 | chr2:179411038;179411037;179411036 |
| N2AB | 30033 | 90322;90323;90324 | chr2:178546311;178546310;178546309 | chr2:179411038;179411037;179411036 |
| N2A | 29106 | 87541;87542;87543 | chr2:178546311;178546310;178546309 | chr2:179411038;179411037;179411036 |
| N2B | 22609 | 68050;68051;68052 | chr2:178546311;178546310;178546309 | chr2:179411038;179411037;179411036 |
| Novex-1 | 22734 | 68425;68426;68427 | chr2:178546311;178546310;178546309 | chr2:179411038;179411037;179411036 |
| Novex-2 | 22801 | 68626;68627;68628 | chr2:178546311;178546310;178546309 | chr2:179411038;179411037;179411036 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs754222897  |
-1.798 | 0.78 | N | 0.579 | 0.4 | 0.665537837766 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| V/A | rs754222897 |
-1.798 | 0.78 | N | 0.579 | 0.4 | 0.665537837766 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs754222897 |
-1.798 | 0.78 | N | 0.579 | 0.4 | 0.665537837766 | gnomAD-4.0.0 | 8.67537E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 8.22639E-04 | 6.78084E-06 | 0 | 1.60108E-05 |
| V/L | rs1559147307 |
None | 0.437 | N | 0.41 | 0.211 | 0.451786746415 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2656 | likely_benign | 0.291 | benign | -1.727 | Destabilizing | 0.78 | D | 0.579 | neutral | N | 0.498214404 | None | None | N |
| V/C | 0.7348 | likely_pathogenic | 0.7446 | pathogenic | -1.319 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/D | 0.6607 | likely_pathogenic | 0.7184 | pathogenic | -1.669 | Destabilizing | 0.996 | D | 0.757 | deleterious | None | None | None | None | N |
| V/E | 0.4875 | ambiguous | 0.5393 | ambiguous | -1.612 | Destabilizing | 0.995 | D | 0.715 | prob.delet. | N | 0.500619052 | None | None | N |
| V/F | 0.1958 | likely_benign | 0.2007 | benign | -1.177 | Destabilizing | 0.976 | D | 0.716 | prob.delet. | None | None | None | None | N |
| V/G | 0.3814 | ambiguous | 0.4175 | ambiguous | -2.107 | Highly Destabilizing | 0.995 | D | 0.741 | deleterious | N | 0.507875643 | None | None | N |
| V/H | 0.6234 | likely_pathogenic | 0.6643 | pathogenic | -1.616 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| V/I | 0.0725 | likely_benign | 0.0696 | benign | -0.751 | Destabilizing | 0.015 | N | 0.247 | neutral | None | None | None | None | N |
| V/K | 0.5213 | ambiguous | 0.5505 | ambiguous | -1.481 | Destabilizing | 0.988 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/L | 0.1634 | likely_benign | 0.1659 | benign | -0.751 | Destabilizing | 0.437 | N | 0.41 | neutral | N | 0.51470307 | None | None | N |
| V/M | 0.1223 | likely_benign | 0.1257 | benign | -0.67 | Destabilizing | 0.968 | D | 0.651 | neutral | N | 0.493379012 | None | None | N |
| V/N | 0.3782 | ambiguous | 0.4077 | ambiguous | -1.4 | Destabilizing | 0.996 | D | 0.773 | deleterious | None | None | None | None | N |
| V/P | 0.9766 | likely_pathogenic | 0.9818 | pathogenic | -1.043 | Destabilizing | 0.996 | D | 0.722 | prob.delet. | None | None | None | None | N |
| V/Q | 0.4349 | ambiguous | 0.472 | ambiguous | -1.497 | Destabilizing | 0.996 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/R | 0.4542 | ambiguous | 0.4903 | ambiguous | -1.017 | Destabilizing | 0.996 | D | 0.771 | deleterious | None | None | None | None | N |
| V/S | 0.3028 | likely_benign | 0.3441 | ambiguous | -1.997 | Destabilizing | 0.988 | D | 0.687 | prob.neutral | None | None | None | None | N |
| V/T | 0.2289 | likely_benign | 0.2545 | benign | -1.824 | Destabilizing | 0.919 | D | 0.592 | neutral | None | None | None | None | N |
| V/W | 0.8316 | likely_pathogenic | 0.8434 | pathogenic | -1.431 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/Y | 0.5754 | likely_pathogenic | 0.5906 | pathogenic | -1.131 | Destabilizing | 0.996 | D | 0.729 | 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.