Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1005 | 3238;3239;3240 | chr2:178782893;178782892;178782891 | chr2:179647620;179647619;179647618 |
| N2AB | 1005 | 3238;3239;3240 | chr2:178782893;178782892;178782891 | chr2:179647620;179647619;179647618 |
| N2A | 1005 | 3238;3239;3240 | chr2:178782893;178782892;178782891 | chr2:179647620;179647619;179647618 |
| N2B | 959 | 3100;3101;3102 | chr2:178782893;178782892;178782891 | chr2:179647620;179647619;179647618 |
| Novex-1 | 959 | 3100;3101;3102 | chr2:178782893;178782892;178782891 | chr2:179647620;179647619;179647618 |
| Novex-2 | 959 | 3100;3101;3102 | chr2:178782893;178782892;178782891 | chr2:179647620;179647619;179647618 |
| Novex-3 | 1005 | 3238;3239;3240 | chr2:178782893;178782892;178782891 | chr2:179647620;179647619;179647618 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 1.0 | D | 0.579 | 0.441 | 0.574230370252 | gnomAD-4.0.0 | 6.84088E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52003E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 1.0 | N | 0.726 | 0.416 | 0.485634191555 | gnomAD-4.0.0 | 3.18122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8567E-06 | 0 | 3.02224E-05 |
| A/V | rs1357635150  |
-0.745 | 1.0 | N | 0.641 | 0.437 | 0.560453403006 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1357635150 |
-0.745 | 1.0 | N | 0.641 | 0.437 | 0.560453403006 | gnomAD-4.0.0 | 1.36818E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.82614E-05 | 0 | None | 0 | 0 | 8.99313E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9407 | likely_pathogenic | 0.9421 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/D | 0.997 | likely_pathogenic | 0.9975 | pathogenic | -2.487 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/E | 0.996 | likely_pathogenic | 0.9966 | pathogenic | -2.336 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.726719701 | None | None | N |
| A/F | 0.9954 | likely_pathogenic | 0.9956 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| A/G | 0.7655 | likely_pathogenic | 0.7876 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.579 | neutral | D | 0.666577909 | None | None | N |
| A/H | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/I | 0.969 | likely_pathogenic | 0.9722 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/K | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/L | 0.9086 | likely_pathogenic | 0.9143 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/M | 0.9675 | likely_pathogenic | 0.9703 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/N | 0.9902 | likely_pathogenic | 0.9911 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/P | 0.9799 | likely_pathogenic | 0.9818 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.564408917 | None | None | N |
| A/Q | 0.995 | likely_pathogenic | 0.9956 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/R | 0.9945 | likely_pathogenic | 0.9951 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/S | 0.5427 | ambiguous | 0.5616 | ambiguous | -2.052 | Highly Destabilizing | 1.0 | D | 0.595 | neutral | D | 0.562354576 | None | None | N |
| A/T | 0.7093 | likely_pathogenic | 0.744 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.511473883 | None | None | N |
| A/V | 0.8332 | likely_pathogenic | 0.8513 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.440821912 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.533 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| A/Y | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.821 | 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.