Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19656 | 59191;59192;59193 | chr2:178593242;178593241;178593240 | chr2:179457969;179457968;179457967 |
| N2AB | 18015 | 54268;54269;54270 | chr2:178593242;178593241;178593240 | chr2:179457969;179457968;179457967 |
| N2A | 17088 | 51487;51488;51489 | chr2:178593242;178593241;178593240 | chr2:179457969;179457968;179457967 |
| N2B | 10591 | 31996;31997;31998 | chr2:178593242;178593241;178593240 | chr2:179457969;179457968;179457967 |
| Novex-1 | 10716 | 32371;32372;32373 | chr2:178593242;178593241;178593240 | chr2:179457969;179457968;179457967 |
| Novex-2 | 10783 | 32572;32573;32574 | chr2:178593242;178593241;178593240 | chr2:179457969;179457968;179457967 |
| 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 | None | None | 1.0 | D | 0.778 | 0.608 | 0.523546030903 | gnomAD-4.0.0 | 6.84362E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99586E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8243 | likely_pathogenic | 0.8448 | pathogenic | -1.925 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/D | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -3.01 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/E | 0.9962 | likely_pathogenic | 0.996 | pathogenic | -2.788 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.577738676 | None | None | N |
| A/F | 0.9932 | likely_pathogenic | 0.9934 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/G | 0.63 | likely_pathogenic | 0.656 | pathogenic | -2.118 | Highly Destabilizing | 1.0 | D | 0.625 | neutral | D | 0.542491218 | None | None | N |
| A/H | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -2.024 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/I | 0.9802 | likely_pathogenic | 0.9804 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/K | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/L | 0.944 | likely_pathogenic | 0.9408 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| A/M | 0.9701 | likely_pathogenic | 0.9687 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/N | 0.9958 | likely_pathogenic | 0.9958 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/P | 0.9906 | likely_pathogenic | 0.9914 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.548531605 | None | None | N |
| A/Q | 0.9914 | likely_pathogenic | 0.9912 | pathogenic | -1.694 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/R | 0.9923 | likely_pathogenic | 0.9923 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/S | 0.4301 | ambiguous | 0.4236 | ambiguous | -2.271 | Highly Destabilizing | 1.0 | D | 0.622 | neutral | D | 0.529106996 | None | None | N |
| A/T | 0.8385 | likely_pathogenic | 0.8299 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.547438288 | None | None | N |
| A/V | 0.8731 | likely_pathogenic | 0.8678 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.549212714 | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/Y | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.833 | 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.