Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18663 | 56212;56213;56214 | chr2:178600917;178600916;178600915 | chr2:179465644;179465643;179465642 |
| N2AB | 17022 | 51289;51290;51291 | chr2:178600917;178600916;178600915 | chr2:179465644;179465643;179465642 |
| N2A | 16095 | 48508;48509;48510 | chr2:178600917;178600916;178600915 | chr2:179465644;179465643;179465642 |
| N2B | 9598 | 29017;29018;29019 | chr2:178600917;178600916;178600915 | chr2:179465644;179465643;179465642 |
| Novex-1 | 9723 | 29392;29393;29394 | chr2:178600917;178600916;178600915 | chr2:179465644;179465643;179465642 |
| Novex-2 | 9790 | 29593;29594;29595 | chr2:178600917;178600916;178600915 | chr2:179465644;179465643;179465642 |
| 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/H | rs1425177371  |
-0.818 | 1.0 | D | 0.764 | 0.764 | 0.391775403332 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| N/H | rs1425177371 |
-0.818 | 1.0 | D | 0.764 | 0.764 | 0.391775403332 | gnomAD-4.0.0 | 1.59298E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88281E-05 | 0 | 0 | 0 | 0 |
| N/S | rs368350844 |
-0.786 | 0.999 | N | 0.599 | 0.543 | None | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 0 | 8.49E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 0 |
| N/S | rs368350844 |
-0.786 | 0.999 | N | 0.599 | 0.543 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| N/S | rs368350844 |
-0.786 | 0.999 | N | 0.599 | 0.543 | None | gnomAD-4.0.0 | 5.26996E-05 | None | None | None | None | N | None | 1.33572E-05 | 3.33645E-05 | None | 0 | 2.23374E-05 | None | 1.56211E-05 | 0 | 6.52923E-05 | 0 | 4.80661E-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 | 0.9964 | likely_pathogenic | 0.9938 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/C | 0.9623 | likely_pathogenic | 0.9505 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| N/D | 0.9915 | likely_pathogenic | 0.9911 | pathogenic | -2.18 | Highly Destabilizing | 0.999 | D | 0.616 | neutral | N | 0.520244409 | None | None | N |
| N/E | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -2.048 | Highly Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| N/F | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| N/G | 0.9881 | likely_pathogenic | 0.9855 | pathogenic | -0.443 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| N/H | 0.9826 | likely_pathogenic | 0.9833 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.550718927 | None | None | N |
| N/I | 0.9962 | likely_pathogenic | 0.9944 | pathogenic | 0.548 | Stabilizing | 1.0 | D | 0.802 | deleterious | D | 0.551225906 | None | None | N |
| N/K | 0.999 | likely_pathogenic | 0.9987 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.741 | deleterious | D | 0.549958458 | None | None | N |
| N/L | 0.9854 | likely_pathogenic | 0.9794 | pathogenic | 0.548 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| N/M | 0.9944 | likely_pathogenic | 0.9924 | pathogenic | 0.778 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| N/P | 0.9976 | likely_pathogenic | 0.9969 | pathogenic | 0.342 | Stabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| N/Q | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| N/R | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | 0.067 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/S | 0.8114 | likely_pathogenic | 0.7863 | pathogenic | -0.71 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.499605258 | None | None | N |
| N/T | 0.9353 | likely_pathogenic | 0.9257 | pathogenic | -0.437 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.49291608 | None | None | N |
| N/V | 0.9945 | likely_pathogenic | 0.9913 | pathogenic | 0.342 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/Y | 0.9963 | likely_pathogenic | 0.9953 | pathogenic | 0.148 | Stabilizing | 1.0 | D | 0.803 | deleterious | D | 0.550972417 | 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.