Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17548 | 52867;52868;52869 | chr2:178608241;178608240;178608239 | chr2:179472968;179472967;179472966 |
| N2AB | 15907 | 47944;47945;47946 | chr2:178608241;178608240;178608239 | chr2:179472968;179472967;179472966 |
| N2A | 14980 | 45163;45164;45165 | chr2:178608241;178608240;178608239 | chr2:179472968;179472967;179472966 |
| N2B | 8483 | 25672;25673;25674 | chr2:178608241;178608240;178608239 | chr2:179472968;179472967;179472966 |
| Novex-1 | 8608 | 26047;26048;26049 | chr2:178608241;178608240;178608239 | chr2:179472968;179472967;179472966 |
| Novex-2 | 8675 | 26248;26249;26250 | chr2:178608241;178608240;178608239 | chr2:179472968;179472967;179472966 |
| 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/I | None | None | 1.0 | D | 0.789 | 0.619 | 0.845779263561 | gnomAD-4.0.0 | 1.60701E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88635E-06 | 0 | 0 |
| N/K | rs1490235327  |
-0.308 | 1.0 | D | 0.754 | 0.585 | 0.264547087235 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.08E-06 | 0 |
| N/K | rs1490235327 |
-0.308 | 1.0 | D | 0.754 | 0.585 | 0.264547087235 | gnomAD-4.0.0 | 1.60722E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88742E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| N/C | 0.9921 | likely_pathogenic | 0.9933 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| N/D | 0.9935 | likely_pathogenic | 0.9932 | pathogenic | -2.244 | Highly Destabilizing | 0.999 | D | 0.601 | neutral | D | 0.526169437 | None | None | N |
| N/E | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.065 | Highly Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/F | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| N/G | 0.9956 | likely_pathogenic | 0.9957 | pathogenic | -0.669 | Destabilizing | 0.999 | D | 0.565 | neutral | None | None | None | None | N |
| N/H | 0.9948 | likely_pathogenic | 0.9942 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.553681442 | None | None | N |
| N/I | 0.9961 | likely_pathogenic | 0.9967 | pathogenic | 0.421 | Stabilizing | 1.0 | D | 0.789 | deleterious | D | 0.542832115 | None | None | N |
| N/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.541564668 | None | None | N |
| N/L | 0.9929 | likely_pathogenic | 0.9942 | pathogenic | 0.421 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| N/M | 0.9962 | likely_pathogenic | 0.996 | pathogenic | 0.498 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| N/P | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/R | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| N/S | 0.9753 | likely_pathogenic | 0.9784 | pathogenic | -0.914 | Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.499934427 | None | None | N |
| N/T | 0.9805 | likely_pathogenic | 0.9868 | pathogenic | -0.595 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | N | 0.487978556 | None | None | N |
| N/V | 0.9952 | likely_pathogenic | 0.9962 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/Y | 0.9962 | likely_pathogenic | 0.996 | pathogenic | 0.07 | Stabilizing | 1.0 | D | 0.809 | deleterious | D | 0.553934931 | 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.