Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22716 | 68371;68372;68373 | chr2:178578884;178578883;178578882 | chr2:179443611;179443610;179443609 |
| N2AB | 21075 | 63448;63449;63450 | chr2:178578884;178578883;178578882 | chr2:179443611;179443610;179443609 |
| N2A | 20148 | 60667;60668;60669 | chr2:178578884;178578883;178578882 | chr2:179443611;179443610;179443609 |
| N2B | 13651 | 41176;41177;41178 | chr2:178578884;178578883;178578882 | chr2:179443611;179443610;179443609 |
| Novex-1 | 13776 | 41551;41552;41553 | chr2:178578884;178578883;178578882 | chr2:179443611;179443610;179443609 |
| Novex-2 | 13843 | 41752;41753;41754 | chr2:178578884;178578883;178578882 | chr2:179443611;179443610;179443609 |
| 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/S | rs1189895762  |
None | 1.0 | D | 0.818 | 0.761 | 0.821253904692 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/S | rs1189895762 |
None | 1.0 | D | 0.818 | 0.761 | 0.821253904692 | gnomAD-4.0.0 | 6.5773E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47115E-05 | 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 | 0.9957 | likely_pathogenic | 0.9925 | pathogenic | -2.368 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| F/C | 0.9636 | likely_pathogenic | 0.9296 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.542200232 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.349 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.092 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/G | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | -2.844 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| F/H | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -2.213 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| F/I | 0.8695 | likely_pathogenic | 0.7815 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.494325339 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.098 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| F/L | 0.9833 | likely_pathogenic | 0.9781 | pathogenic | -0.795 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.477159364 | None | None | N |
| F/M | 0.9422 | likely_pathogenic | 0.9299 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/N | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -2.86 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.561 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| F/R | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/S | 0.9978 | likely_pathogenic | 0.9962 | pathogenic | -3.247 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.530843926 | None | None | N |
| F/T | 0.9976 | likely_pathogenic | 0.9956 | pathogenic | -2.854 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| F/V | 0.8551 | likely_pathogenic | 0.7415 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.486243809 | None | None | N |
| F/W | 0.9543 | likely_pathogenic | 0.9459 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| F/Y | 0.8109 | likely_pathogenic | 0.7895 | pathogenic | -0.802 | Destabilizing | 0.999 | D | 0.598 | neutral | N | 0.490734623 | 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.