Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31088 | 93487;93488;93489 | chr2:178548364;178548363;178548362 | chr2:179413091;179413090;179413089 |
| N2AB | 29447 | 88564;88565;88566 | chr2:178548364;178548363;178548362 | chr2:179413091;179413090;179413089 |
| N2A | 28520 | 85783;85784;85785 | chr2:178548364;178548363;178548362 | chr2:179413091;179413090;179413089 |
| N2B | 22023 | 66292;66293;66294 | chr2:178548364;178548363;178548362 | chr2:179413091;179413090;179413089 |
| Novex-1 | 22148 | 66667;66668;66669 | chr2:178548364;178548363;178548362 | chr2:179413091;179413090;179413089 |
| Novex-2 | 22215 | 66868;66869;66870 | chr2:178548364;178548363;178548362 | chr2:179413091;179413090;179413089 |
| 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/L | rs751923958  |
None | 0.811 | N | 0.728 | 0.525 | 0.500994481783 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs751923958 |
None | 0.811 | N | 0.728 | 0.525 | 0.500994481783 | gnomAD-4.0.0 | 6.57289E-06 | None | None | None | None | N | None | 2.41359E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/V | rs1023137329 |
-1.514 | 0.896 | N | 0.801 | 0.523 | 0.787118677529 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| F/V | rs1023137329 |
-1.514 | 0.896 | N | 0.801 | 0.523 | 0.787118677529 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| F/V | rs1023137329 |
-1.514 | 0.896 | N | 0.801 | 0.523 | 0.787118677529 | gnomAD-4.0.0 | 1.79703E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.37321E-05 | 0 | 1.60097E-05 |
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 | 0.9871 | likely_pathogenic | 0.9823 | pathogenic | -1.963 | Destabilizing | 0.919 | D | 0.816 | deleterious | None | None | None | None | N |
| F/C | 0.8725 | likely_pathogenic | 0.8537 | pathogenic | -1.505 | Destabilizing | 0.999 | D | 0.837 | deleterious | D | 0.570014951 | None | None | N |
| F/D | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -3.18 | Highly Destabilizing | 0.988 | D | 0.855 | deleterious | None | None | None | None | N |
| F/E | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -2.964 | Highly Destabilizing | 0.988 | D | 0.85 | deleterious | None | None | None | None | N |
| F/G | 0.9929 | likely_pathogenic | 0.9894 | pathogenic | -2.36 | Highly Destabilizing | 0.988 | D | 0.831 | deleterious | None | None | None | None | N |
| F/H | 0.9891 | likely_pathogenic | 0.9832 | pathogenic | -1.834 | Destabilizing | 0.976 | D | 0.807 | deleterious | None | None | None | None | N |
| F/I | 0.766 | likely_pathogenic | 0.7464 | pathogenic | -0.662 | Destabilizing | 0.968 | D | 0.739 | prob.delet. | N | 0.516050445 | None | None | N |
| F/K | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -2.211 | Highly Destabilizing | 0.988 | D | 0.849 | deleterious | None | None | None | None | N |
| F/L | 0.9572 | likely_pathogenic | 0.9535 | pathogenic | -0.662 | Destabilizing | 0.811 | D | 0.728 | prob.delet. | N | 0.513367874 | None | None | N |
| F/M | 0.9242 | likely_pathogenic | 0.9153 | pathogenic | -0.583 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| F/N | 0.9978 | likely_pathogenic | 0.9967 | pathogenic | -2.945 | Highly Destabilizing | 0.988 | D | 0.85 | deleterious | None | None | None | None | N |
| F/P | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.108 | Destabilizing | 0.034 | N | 0.745 | deleterious | None | None | None | None | N |
| F/Q | 0.9985 | likely_pathogenic | 0.9976 | pathogenic | -2.653 | Highly Destabilizing | 0.996 | D | 0.865 | deleterious | None | None | None | None | N |
| F/R | 0.9975 | likely_pathogenic | 0.9959 | pathogenic | -2.274 | Highly Destabilizing | 0.988 | D | 0.858 | deleterious | None | None | None | None | N |
| F/S | 0.9902 | likely_pathogenic | 0.9855 | pathogenic | -3.233 | Highly Destabilizing | 0.984 | D | 0.825 | deleterious | D | 0.558658646 | None | None | N |
| F/T | 0.9916 | likely_pathogenic | 0.9873 | pathogenic | -2.897 | Highly Destabilizing | 0.988 | D | 0.821 | deleterious | None | None | None | None | N |
| F/V | 0.7591 | likely_pathogenic | 0.7362 | pathogenic | -1.108 | Destabilizing | 0.896 | D | 0.801 | deleterious | N | 0.507639747 | None | None | N |
| F/W | 0.8773 | likely_pathogenic | 0.8447 | pathogenic | -0.473 | Destabilizing | 0.997 | D | 0.744 | deleterious | None | None | None | None | N |
| F/Y | 0.4901 | ambiguous | 0.4531 | ambiguous | -0.755 | Destabilizing | 0.026 | N | 0.295 | neutral | D | 0.527930637 | 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.