Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24299 | 73120;73121;73122 | chr2:178573237;178573236;178573235 | chr2:179437964;179437963;179437962 |
| N2AB | 22658 | 68197;68198;68199 | chr2:178573237;178573236;178573235 | chr2:179437964;179437963;179437962 |
| N2A | 21731 | 65416;65417;65418 | chr2:178573237;178573236;178573235 | chr2:179437964;179437963;179437962 |
| N2B | 15234 | 45925;45926;45927 | chr2:178573237;178573236;178573235 | chr2:179437964;179437963;179437962 |
| Novex-1 | 15359 | 46300;46301;46302 | chr2:178573237;178573236;178573235 | chr2:179437964;179437963;179437962 |
| Novex-2 | 15426 | 46501;46502;46503 | chr2:178573237;178573236;178573235 | chr2:179437964;179437963;179437962 |
| 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/T | rs1708888028  |
None | 1.0 | D | 0.783 | 0.647 | 0.681858940203 | gnomAD-4.0.0 | 3.21905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.91087E-05 | 0 |
| A/V | rs763506215 |
-1.236 | 1.0 | D | 0.694 | 0.59 | 0.821178597247 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.04E-06 | 0 |
| A/V | rs763506215 |
-1.236 | 1.0 | D | 0.694 | 0.59 | 0.821178597247 | 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 |
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 | 0.9174 | likely_pathogenic | 0.9008 | pathogenic | -1.858 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/D | 0.9977 | likely_pathogenic | 0.9975 | pathogenic | -2.844 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.668687337 | None | None | N |
| A/E | 0.9958 | likely_pathogenic | 0.9953 | pathogenic | -2.616 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/F | 0.9956 | likely_pathogenic | 0.9949 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/G | 0.4868 | ambiguous | 0.4771 | ambiguous | -2.308 | Highly Destabilizing | 1.0 | D | 0.615 | neutral | D | 0.629694394 | None | None | N |
| A/H | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/I | 0.9861 | likely_pathogenic | 0.9859 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/K | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/L | 0.9388 | likely_pathogenic | 0.9365 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/M | 0.9736 | likely_pathogenic | 0.9705 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/N | 0.9957 | likely_pathogenic | 0.9943 | pathogenic | -1.935 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| A/P | 0.9908 | likely_pathogenic | 0.9895 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.651830398 | None | None | N |
| A/Q | 0.9932 | likely_pathogenic | 0.9911 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/R | 0.9953 | likely_pathogenic | 0.9939 | pathogenic | -1.545 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/S | 0.5209 | ambiguous | 0.4722 | ambiguous | -2.274 | Highly Destabilizing | 1.0 | D | 0.601 | neutral | D | 0.608658491 | None | None | N |
| A/T | 0.8747 | likely_pathogenic | 0.8741 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.626120843 | None | None | N |
| A/V | 0.8953 | likely_pathogenic | 0.901 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | D | 0.634802016 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/Y | 0.9978 | likely_pathogenic | 0.997 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.899 | 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.