Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16429 | 49510;49511;49512 | chr2:178614112;178614111;178614110 | chr2:179478839;179478838;179478837 |
| N2AB | 14788 | 44587;44588;44589 | chr2:178614112;178614111;178614110 | chr2:179478839;179478838;179478837 |
| N2A | 13861 | 41806;41807;41808 | chr2:178614112;178614111;178614110 | chr2:179478839;179478838;179478837 |
| N2B | 7364 | 22315;22316;22317 | chr2:178614112;178614111;178614110 | chr2:179478839;179478838;179478837 |
| Novex-1 | 7489 | 22690;22691;22692 | chr2:178614112;178614111;178614110 | chr2:179478839;179478838;179478837 |
| Novex-2 | 7556 | 22891;22892;22893 | chr2:178614112;178614111;178614110 | chr2:179478839;179478838;179478837 |
| 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/D | None | None | 0.999 | D | 0.623 | 0.663 | 0.488407942198 | gnomAD-4.0.0 | 1.59392E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88445E-05 | 0 | 0 | 0 | 0 |
| N/K | rs763809932  |
None | 1.0 | D | 0.763 | 0.556 | 0.332133492242 |
Liu (2020)
| None |
AVB 
|
het | None | None | N | WES prioritisation in single AVB family; co-segregates with disease phenotype (n = 5, 5 affected (7 total)) | None | None | None | None | None | None | None | None | None | None | None |
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 | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| N/C | 0.9941 | likely_pathogenic | 0.99 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| N/D | 0.9968 | likely_pathogenic | 0.9946 | pathogenic | -2.221 | Highly Destabilizing | 0.999 | D | 0.623 | neutral | D | 0.701044346 | None | None | N |
| N/E | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.036 | Highly Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| N/F | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| N/G | 0.9977 | likely_pathogenic | 0.9964 | pathogenic | -1.15 | Destabilizing | 0.999 | D | 0.584 | neutral | None | None | None | None | N |
| N/H | 0.997 | likely_pathogenic | 0.9953 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.780508208 | None | None | N |
| N/I | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.811653224 | None | None | N |
| N/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.77841977 | None | None | N |
| N/L | 0.9973 | likely_pathogenic | 0.9958 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/M | 0.9983 | likely_pathogenic | 0.9973 | pathogenic | 0.15 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| N/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| N/Q | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| N/R | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| N/S | 0.9809 | likely_pathogenic | 0.969 | pathogenic | -1.096 | Destabilizing | 0.999 | D | 0.607 | neutral | D | 0.632274821 | None | None | N |
| N/T | 0.9921 | likely_pathogenic | 0.988 | pathogenic | -0.758 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | D | 0.650265992 | None | None | N |
| N/V | 0.9984 | likely_pathogenic | 0.9977 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| N/W | 1.0 | likely_pathogenic | 1.0 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| N/Y | 0.9984 | likely_pathogenic | 0.9977 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.780508208 | 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.