Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14714 | 44365;44366;44367 | chr2:178630818;178630817;178630816 | chr2:179495545;179495544;179495543 |
| N2AB | 13073 | 39442;39443;39444 | chr2:178630818;178630817;178630816 | chr2:179495545;179495544;179495543 |
| N2A | 12146 | 36661;36662;36663 | chr2:178630818;178630817;178630816 | chr2:179495545;179495544;179495543 |
| N2B | 5649 | 17170;17171;17172 | chr2:178630818;178630817;178630816 | chr2:179495545;179495544;179495543 |
| Novex-1 | 5774 | 17545;17546;17547 | chr2:178630818;178630817;178630816 | chr2:179495545;179495544;179495543 |
| Novex-2 | 5841 | 17746;17747;17748 | chr2:178630818;178630817;178630816 | chr2:179495545;179495544;179495543 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | None | None | 0.997 | N | 0.605 | 0.258 | 0.394837016283 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| L/P | rs188047410  |
-1.574 | 1.0 | D | 0.814 | 0.496 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/P | rs188047410 |
-1.574 | 1.0 | D | 0.814 | 0.496 | None | 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 |
| L/P | rs188047410 |
-1.574 | 1.0 | D | 0.814 | 0.496 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| L/P | rs188047410 |
-1.574 | 1.0 | D | 0.814 | 0.496 | None | gnomAD-4.0.0 | 2.56507E-06 | None | None | None | None | N | None | 1.68976E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39613E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.7841 | likely_pathogenic | 0.843 | pathogenic | -1.743 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| L/C | 0.8679 | likely_pathogenic | 0.9098 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| L/D | 0.9944 | likely_pathogenic | 0.9955 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| L/E | 0.955 | likely_pathogenic | 0.967 | pathogenic | -0.959 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| L/F | 0.452 | ambiguous | 0.5107 | ambiguous | -0.984 | Destabilizing | 0.999 | D | 0.733 | deleterious | None | None | None | None | N |
| L/G | 0.9657 | likely_pathogenic | 0.9776 | pathogenic | -2.137 | Highly Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| L/H | 0.8941 | likely_pathogenic | 0.9214 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| L/I | 0.1171 | likely_benign | 0.1435 | benign | -0.686 | Destabilizing | 0.997 | D | 0.605 | neutral | N | 0.471723607 | None | None | N |
| L/K | 0.8957 | likely_pathogenic | 0.9319 | pathogenic | -1.231 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| L/M | 0.2801 | likely_benign | 0.3244 | benign | -0.741 | Destabilizing | 0.999 | D | 0.731 | deleterious | None | None | None | None | N |
| L/N | 0.9608 | likely_pathogenic | 0.9729 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| L/P | 0.941 | likely_pathogenic | 0.9549 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.629826829 | None | None | N |
| L/Q | 0.8363 | likely_pathogenic | 0.8774 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.629826829 | None | None | N |
| L/R | 0.8441 | likely_pathogenic | 0.8741 | pathogenic | -0.802 | Destabilizing | 0.999 | D | 0.849 | deleterious | D | 0.628274665 | None | None | N |
| L/S | 0.9273 | likely_pathogenic | 0.949 | pathogenic | -2.017 | Highly Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| L/T | 0.8191 | likely_pathogenic | 0.8801 | pathogenic | -1.768 | Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| L/V | 0.1482 | likely_benign | 0.1801 | benign | -1.011 | Destabilizing | 0.997 | D | 0.615 | neutral | N | 0.504891933 | None | None | N |
| L/W | 0.835 | likely_pathogenic | 0.8611 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| L/Y | 0.8541 | likely_pathogenic | 0.8922 | pathogenic | -0.847 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | 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.