Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18273 | 55042;55043;55044 | chr2:178602585;178602584;178602583 | chr2:179467312;179467311;179467310 |
| N2AB | 16632 | 50119;50120;50121 | chr2:178602585;178602584;178602583 | chr2:179467312;179467311;179467310 |
| N2A | 15705 | 47338;47339;47340 | chr2:178602585;178602584;178602583 | chr2:179467312;179467311;179467310 |
| N2B | 9208 | 27847;27848;27849 | chr2:178602585;178602584;178602583 | chr2:179467312;179467311;179467310 |
| Novex-1 | 9333 | 28222;28223;28224 | chr2:178602585;178602584;178602583 | chr2:179467312;179467311;179467310 |
| Novex-2 | 9400 | 28423;28424;28425 | chr2:178602585;178602584;178602583 | chr2:179467312;179467311;179467310 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.914 | D | 0.707 | 0.628 | 0.683093444397 | gnomAD-4.0.0 | 7.41087E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.43524E-07 | 0 | 0 |
| P/L | rs201035511  |
-0.667 | 0.995 | D | 0.782 | 0.689 | None | gnomAD-2.1.1 | 3.99176E-04 | None | None | None | None | N | None | 5.73E-05 | 2.19138E-04 | None | 9.31446E-04 | 0 | None | 0 | None | 0 | 7.3091E-04 | 4.68165E-04 |
| P/L | rs201035511 |
-0.667 | 0.995 | D | 0.782 | 0.689 | None | gnomAD-3.1.2 | 4.81124E-04 | None | None | None | None | N | None | 9.68E-05 | 1.97394E-04 | 0 | 1.44175E-03 | 3.90168E-04 | None | 9.49E-05 | 0 | 8.5387E-04 | 0 | 0 |
| P/L | rs201035511 |
-0.667 | 0.995 | D | 0.782 | 0.689 | None | gnomAD-4.0.0 | 6.30037E-04 | None | None | None | None | N | None | 8.48512E-05 | 2.63158E-04 | None | 9.02173E-04 | 4.84074E-05 | None | 1.01238E-04 | 3.53232E-04 | 7.77725E-04 | 0 | 3.45817E-04 |
| P/R | None | None | 0.163 | D | 0.617 | 0.615 | 0.666303617341 | gnomAD-4.0.0 | 7.40058E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.42488E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6313 | likely_pathogenic | 0.6157 | pathogenic | -1.663 | Destabilizing | 0.914 | D | 0.707 | prob.delet. | D | 0.631776696 | None | None | N |
| P/C | 0.9736 | likely_pathogenic | 0.9644 | pathogenic | -2.093 | Highly Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| P/D | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -3.345 | Highly Destabilizing | 0.99 | D | 0.757 | deleterious | None | None | None | None | N |
| P/E | 0.9968 | likely_pathogenic | 0.9956 | pathogenic | -3.262 | Highly Destabilizing | 0.98 | D | 0.752 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.13 | Destabilizing | 0.999 | D | 0.808 | deleterious | None | None | None | None | N |
| P/G | 0.9848 | likely_pathogenic | 0.98 | pathogenic | -2.005 | Highly Destabilizing | 0.98 | D | 0.785 | deleterious | None | None | None | None | N |
| P/H | 0.9971 | likely_pathogenic | 0.9953 | pathogenic | -1.452 | Destabilizing | 0.997 | D | 0.794 | deleterious | None | None | None | None | N |
| P/I | 0.9929 | likely_pathogenic | 0.9898 | pathogenic | -0.766 | Destabilizing | 0.99 | D | 0.771 | deleterious | None | None | None | None | N |
| P/K | 0.998 | likely_pathogenic | 0.9969 | pathogenic | -1.579 | Destabilizing | 0.875 | D | 0.735 | deleterious | None | None | None | None | N |
| P/L | 0.9668 | likely_pathogenic | 0.9553 | pathogenic | -0.766 | Destabilizing | 0.995 | D | 0.782 | deleterious | D | 0.626235105 | None | None | N |
| P/M | 0.9957 | likely_pathogenic | 0.994 | pathogenic | -1.074 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.915 | Destabilizing | 0.98 | D | 0.802 | deleterious | None | None | None | None | N |
| P/Q | 0.9948 | likely_pathogenic | 0.9916 | pathogenic | -2.035 | Highly Destabilizing | 0.989 | D | 0.786 | deleterious | D | 0.648199666 | None | None | N |
| P/R | 0.9914 | likely_pathogenic | 0.986 | pathogenic | -1.146 | Destabilizing | 0.163 | N | 0.617 | neutral | D | 0.648199666 | None | None | N |
| P/S | 0.9613 | likely_pathogenic | 0.9495 | pathogenic | -2.259 | Highly Destabilizing | 0.974 | D | 0.745 | deleterious | D | 0.626638714 | None | None | N |
| P/T | 0.9688 | likely_pathogenic | 0.9495 | pathogenic | -2.072 | Highly Destabilizing | 0.974 | D | 0.733 | deleterious | D | 0.616160944 | None | None | N |
| P/V | 0.9656 | likely_pathogenic | 0.9529 | pathogenic | -1.038 | Destabilizing | 0.99 | D | 0.809 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.487 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.161 | Destabilizing | 0.999 | D | 0.803 | 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.