Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1476 | 4651;4652;4653 | chr2:178777758;178777757;178777756 | chr2:179642485;179642484;179642483 |
| N2AB | 1476 | 4651;4652;4653 | chr2:178777758;178777757;178777756 | chr2:179642485;179642484;179642483 |
| N2A | 1476 | 4651;4652;4653 | chr2:178777758;178777757;178777756 | chr2:179642485;179642484;179642483 |
| N2B | 1430 | 4513;4514;4515 | chr2:178777758;178777757;178777756 | chr2:179642485;179642484;179642483 |
| Novex-1 | 1430 | 4513;4514;4515 | chr2:178777758;178777757;178777756 | chr2:179642485;179642484;179642483 |
| Novex-2 | 1430 | 4513;4514;4515 | chr2:178777758;178777757;178777756 | chr2:179642485;179642484;179642483 |
| Novex-3 | 1476 | 4651;4652;4653 | chr2:178777758;178777757;178777756 | chr2:179642485;179642484;179642483 |
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/S | None | None | 1.0 | D | 0.876 | 0.8 | 0.883368035574 | gnomAD-4.0.0 | 1.59072E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77377E-05 | None | 0 | 0 | 0 | 0 | 0 |
| F/Y | rs1480994603  |
0.121 | 0.999 | D | 0.616 | 0.692 | 0.690180613628 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| F/Y | rs1480994603 |
0.121 | 0.999 | D | 0.616 | 0.692 | 0.690180613628 | gnomAD-4.0.0 | 1.59072E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77377E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.995 | likely_pathogenic | 0.9955 | pathogenic | -2.485 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| F/C | 0.9723 | likely_pathogenic | 0.9745 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.787053052 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.444 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.209 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| F/G | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.914 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/H | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -2.313 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/I | 0.8645 | likely_pathogenic | 0.8724 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.527469446 | None | None | N |
| F/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.224 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/L | 0.9778 | likely_pathogenic | 0.9798 | pathogenic | -1.054 | Destabilizing | 0.999 | D | 0.652 | neutral | N | 0.476336206 | None | None | N |
| F/M | 0.9171 | likely_pathogenic | 0.9225 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| F/N | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.947 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| F/Q | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.675 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| F/R | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.26 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/S | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -3.251 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.787053052 | None | None | N |
| F/T | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -2.891 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/V | 0.9131 | likely_pathogenic | 0.9142 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.630796118 | None | None | N |
| F/W | 0.9576 | likely_pathogenic | 0.9578 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| F/Y | 0.8164 | likely_pathogenic | 0.8304 | pathogenic | -1.023 | Destabilizing | 0.999 | D | 0.616 | neutral | D | 0.728776452 | 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.