Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18066 | 54421;54422;54423 | chr2:178604893;178604892;178604891 | chr2:179469620;179469619;179469618 |
| N2AB | 16425 | 49498;49499;49500 | chr2:178604893;178604892;178604891 | chr2:179469620;179469619;179469618 |
| N2A | 15498 | 46717;46718;46719 | chr2:178604893;178604892;178604891 | chr2:179469620;179469619;179469618 |
| N2B | 9001 | 27226;27227;27228 | chr2:178604893;178604892;178604891 | chr2:179469620;179469619;179469618 |
| Novex-1 | 9126 | 27601;27602;27603 | chr2:178604893;178604892;178604891 | chr2:179469620;179469619;179469618 |
| Novex-2 | 9193 | 27802;27803;27804 | chr2:178604893;178604892;178604891 | chr2:179469620;179469619;179469618 |
| 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 | 0.999 | D | 0.799 | 0.75 | 0.761287461063 | gnomAD-4.0.0 | 1.59712E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86771E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9788 | likely_pathogenic | 0.979 | pathogenic | -1.575 | Destabilizing | 0.999 | D | 0.799 | deleterious | D | 0.615412653 | None | None | N |
| P/C | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -2.228 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.545 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/E | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.454 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/G | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/H | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/I | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.641 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/L | 0.992 | likely_pathogenic | 0.992 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.648087148 | None | None | N |
| P/M | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.08 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/Q | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.648288952 | None | None | N |
| P/R | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.631835622 | None | None | N |
| P/S | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.647885344 | None | None | N |
| P/T | 0.997 | likely_pathogenic | 0.9967 | pathogenic | -2.168 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.648087148 | None | None | N |
| P/V | 0.9926 | likely_pathogenic | 0.993 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.837 | 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.