Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24591 | 73996;73997;73998 | chr2:178572361;178572360;178572359 | chr2:179437088;179437087;179437086 |
| N2AB | 22950 | 69073;69074;69075 | chr2:178572361;178572360;178572359 | chr2:179437088;179437087;179437086 |
| N2A | 22023 | 66292;66293;66294 | chr2:178572361;178572360;178572359 | chr2:179437088;179437087;179437086 |
| N2B | 15526 | 46801;46802;46803 | chr2:178572361;178572360;178572359 | chr2:179437088;179437087;179437086 |
| Novex-1 | 15651 | 47176;47177;47178 | chr2:178572361;178572360;178572359 | chr2:179437088;179437087;179437086 |
| Novex-2 | 15718 | 47377;47378;47379 | chr2:178572361;178572360;178572359 | chr2:179437088;179437087;179437086 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | rs371513695  |
-1.664 | 1.0 | D | 0.85 | 0.712 | None | gnomAD-4.0.0 | 1.36951E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80033E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9992 | likely_pathogenic | 0.9984 | pathogenic | -2.748 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| F/C | 0.9924 | likely_pathogenic | 0.9856 | pathogenic | -1.897 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.568862862 | None | None | N |
| F/D | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -3.698 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/E | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -3.463 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| F/G | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -3.198 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/H | 0.9983 | likely_pathogenic | 0.9972 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/I | 0.9732 | likely_pathogenic | 0.9479 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.513252515 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.61 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/L | 0.9949 | likely_pathogenic | 0.9917 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.513697042 | None | None | N |
| F/M | 0.9903 | likely_pathogenic | 0.9843 | pathogenic | -0.952 | Destabilizing | 0.999 | D | 0.82 | deleterious | None | None | None | None | N |
| F/N | 0.9998 | likely_pathogenic | 0.9995 | pathogenic | -3.318 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| F/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.129 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/R | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -2.353 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/S | 0.9993 | likely_pathogenic | 0.9985 | pathogenic | -3.778 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.568862862 | None | None | N |
| F/T | 0.9994 | likely_pathogenic | 0.9987 | pathogenic | -3.419 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| F/V | 0.9761 | likely_pathogenic | 0.9536 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.505993905 | None | None | N |
| F/W | 0.968 | likely_pathogenic | 0.9511 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| F/Y | 0.8592 | likely_pathogenic | 0.7801 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.599 | neutral | D | 0.525461875 | 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.