Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17939 | 54040;54041;54042 | chr2:178605480;178605479;178605478 | chr2:179470207;179470206;179470205 |
| N2AB | 16298 | 49117;49118;49119 | chr2:178605480;178605479;178605478 | chr2:179470207;179470206;179470205 |
| N2A | 15371 | 46336;46337;46338 | chr2:178605480;178605479;178605478 | chr2:179470207;179470206;179470205 |
| N2B | 8874 | 26845;26846;26847 | chr2:178605480;178605479;178605478 | chr2:179470207;179470206;179470205 |
| Novex-1 | 8999 | 27220;27221;27222 | chr2:178605480;178605479;178605478 | chr2:179470207;179470206;179470205 |
| Novex-2 | 9066 | 27421;27422;27423 | chr2:178605480;178605479;178605478 | chr2:179470207;179470206;179470205 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 0.991 | D | 0.805 | 0.728 | 0.660981396111 | gnomAD-4.0.0 | 1.59524E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86571E-06 | 0 | 0 |
| A/V | None | None | 0.885 | D | 0.63 | 0.676 | 0.699363104141 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.745 | likely_pathogenic | 0.7623 | pathogenic | -2.019 | Highly Destabilizing | 0.06 | N | 0.389 | neutral | None | None | None | None | N |
| A/D | 0.9964 | likely_pathogenic | 0.9965 | pathogenic | -3.085 | Highly Destabilizing | 0.982 | D | 0.853 | deleterious | D | 0.624576053 | None | None | N |
| A/E | 0.9952 | likely_pathogenic | 0.9958 | pathogenic | -2.845 | Highly Destabilizing | 0.986 | D | 0.811 | deleterious | None | None | None | None | N |
| A/F | 0.9942 | likely_pathogenic | 0.9926 | pathogenic | -0.981 | Destabilizing | 0.993 | D | 0.865 | deleterious | None | None | None | None | N |
| A/G | 0.4914 | ambiguous | 0.5192 | ambiguous | -2.425 | Highly Destabilizing | 0.939 | D | 0.62 | neutral | D | 0.571885395 | None | None | N |
| A/H | 0.9971 | likely_pathogenic | 0.9972 | pathogenic | -2.258 | Highly Destabilizing | 0.999 | D | 0.848 | deleterious | None | None | None | None | N |
| A/I | 0.9687 | likely_pathogenic | 0.9636 | pathogenic | -0.696 | Destabilizing | 0.986 | D | 0.801 | deleterious | None | None | None | None | N |
| A/K | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.62 | Destabilizing | 0.986 | D | 0.81 | deleterious | None | None | None | None | N |
| A/L | 0.9149 | likely_pathogenic | 0.9062 | pathogenic | -0.696 | Destabilizing | 0.91 | D | 0.75 | deleterious | None | None | None | None | N |
| A/M | 0.9335 | likely_pathogenic | 0.9366 | pathogenic | -1.237 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| A/N | 0.9873 | likely_pathogenic | 0.9882 | pathogenic | -2.113 | Highly Destabilizing | 0.986 | D | 0.855 | deleterious | None | None | None | None | N |
| A/P | 0.9901 | likely_pathogenic | 0.9905 | pathogenic | -1.088 | Destabilizing | 0.991 | D | 0.805 | deleterious | D | 0.575448228 | None | None | N |
| A/Q | 0.9913 | likely_pathogenic | 0.9932 | pathogenic | -1.861 | Destabilizing | 0.993 | D | 0.803 | deleterious | None | None | None | None | N |
| A/R | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -1.65 | Destabilizing | 0.993 | D | 0.804 | deleterious | None | None | None | None | N |
| A/S | 0.3695 | ambiguous | 0.3731 | ambiguous | -2.508 | Highly Destabilizing | 0.885 | D | 0.618 | neutral | D | 0.54318806 | None | None | N |
| A/T | 0.5537 | ambiguous | 0.6269 | pathogenic | -2.151 | Highly Destabilizing | 0.322 | N | 0.379 | neutral | D | 0.586188523 | None | None | N |
| A/V | 0.7747 | likely_pathogenic | 0.7737 | pathogenic | -1.088 | Destabilizing | 0.885 | D | 0.63 | neutral | D | 0.590690732 | None | None | N |
| A/W | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.557 | Destabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | N |
| A/Y | 0.997 | likely_pathogenic | 0.9962 | pathogenic | -1.251 | Destabilizing | 0.998 | D | 0.881 | 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.