Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 161 | 706;707;708 | chr2:178800497;178800496;178800495 | chr2:179665224;179665223;179665222 |
| N2AB | 161 | 706;707;708 | chr2:178800497;178800496;178800495 | chr2:179665224;179665223;179665222 |
| N2A | 161 | 706;707;708 | chr2:178800497;178800496;178800495 | chr2:179665224;179665223;179665222 |
| N2B | 161 | 706;707;708 | chr2:178800497;178800496;178800495 | chr2:179665224;179665223;179665222 |
| Novex-1 | 161 | 706;707;708 | chr2:178800497;178800496;178800495 | chr2:179665224;179665223;179665222 |
| Novex-2 | 161 | 706;707;708 | chr2:178800497;178800496;178800495 | chr2:179665224;179665223;179665222 |
| Novex-3 | 161 | 706;707;708 | chr2:178800497;178800496;178800495 | chr2:179665224;179665223;179665222 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | None | None | 1.0 | D | 0.887 | 0.876 | 0.919668010579 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.257(TCAP) | N | None | 6.33473E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9869 | likely_pathogenic | 0.9896 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | -0.614(TCAP) | N |
| L/C | 0.99 | likely_pathogenic | 0.9907 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | -1.03(TCAP) | N |
| L/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.896 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | -0.563(TCAP) | N |
| L/E | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -2.561 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | -0.721(TCAP) | N |
| L/F | 0.8859 | likely_pathogenic | 0.9248 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.686278449 | None | -1.914(TCAP) | N |
| L/G | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -3.048 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | -0.446(TCAP) | N |
| L/H | 0.9976 | likely_pathogenic | 0.998 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | -0.91(TCAP) | N |
| L/I | 0.4994 | ambiguous | 0.5659 | pathogenic | -0.529 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | D | 0.687805296 | None | -1.174(TCAP) | N |
| L/K | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | -0.935(TCAP) | N |
| L/M | 0.6554 | likely_pathogenic | 0.7013 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -1.496(TCAP) | N |
| L/N | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -2.523 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | -0.619(TCAP) | N |
| L/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | -0.98(TCAP) | N |
| L/Q | 0.9957 | likely_pathogenic | 0.9971 | pathogenic | -2.117 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | -0.739(TCAP) | N |
| L/R | 0.9947 | likely_pathogenic | 0.996 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -1.097(TCAP) | N |
| L/S | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -3.127 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.807241778 | None | -0.257(TCAP) | N |
| L/T | 0.9944 | likely_pathogenic | 0.9956 | pathogenic | -2.612 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | -0.465(TCAP) | N |
| L/V | 0.6022 | likely_pathogenic | 0.6631 | pathogenic | -1.147 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | D | 0.638226069 | None | -0.98(TCAP) | N |
| L/W | 0.9938 | likely_pathogenic | 0.9959 | pathogenic | -1.825 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | -2.501(TCAP) | N |
| L/Y | 0.9932 | likely_pathogenic | 0.9953 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | -2.002(TCAP) | 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.