Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19363 | 58312;58313;58314 | chr2:178594407;178594406;178594405 | chr2:179459134;179459133;179459132 |
| N2AB | 17722 | 53389;53390;53391 | chr2:178594407;178594406;178594405 | chr2:179459134;179459133;179459132 |
| N2A | 16795 | 50608;50609;50610 | chr2:178594407;178594406;178594405 | chr2:179459134;179459133;179459132 |
| N2B | 10298 | 31117;31118;31119 | chr2:178594407;178594406;178594405 | chr2:179459134;179459133;179459132 |
| Novex-1 | 10423 | 31492;31493;31494 | chr2:178594407;178594406;178594405 | chr2:179459134;179459133;179459132 |
| Novex-2 | 10490 | 31693;31694;31695 | chr2:178594407;178594406;178594405 | chr2:179459134;179459133;179459132 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs777181856  |
-1.473 | 0.999 | N | 0.588 | 0.64 | 0.379020345274 | gnomAD-2.1.1 | 8.19E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.88E-05 | None | 0 | 0 | 0 |
| N/S | rs777181856 |
-1.473 | 0.999 | N | 0.588 | 0.64 | 0.379020345274 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93874E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs777181856 |
-1.473 | 0.999 | N | 0.588 | 0.64 | 0.379020345274 | gnomAD-4.0.0 | 7.46796E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.24004E-05 | None | 0 | 0 | 0 | 1.11339E-04 | 1.60844E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9978 | likely_pathogenic | 0.9966 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/C | 0.9695 | likely_pathogenic | 0.9596 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/D | 0.9944 | likely_pathogenic | 0.9923 | pathogenic | -2.262 | Highly Destabilizing | 0.999 | D | 0.604 | neutral | N | 0.515942449 | None | None | N |
| N/E | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.057 | Highly Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| N/F | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| N/G | 0.9896 | likely_pathogenic | 0.9868 | pathogenic | -1.871 | Destabilizing | 0.999 | D | 0.567 | neutral | None | None | None | None | N |
| N/H | 0.992 | likely_pathogenic | 0.9874 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.547177436 | None | None | N |
| N/I | 0.9979 | likely_pathogenic | 0.9966 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.547430925 | None | None | N |
| N/K | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.539415528 | None | None | N |
| N/L | 0.99 | likely_pathogenic | 0.9863 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| N/M | 0.9967 | likely_pathogenic | 0.9955 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| N/P | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/Q | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| N/R | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/S | 0.8833 | likely_pathogenic | 0.8518 | pathogenic | -1.55 | Destabilizing | 0.999 | D | 0.588 | neutral | N | 0.510155551 | None | None | N |
| N/T | 0.9763 | likely_pathogenic | 0.9695 | pathogenic | -1.191 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.502353963 | None | None | N |
| N/V | 0.9967 | likely_pathogenic | 0.9951 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/Y | 0.9977 | likely_pathogenic | 0.9966 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.558533741 | 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.